BCAT2

branched chain amino acid transaminase 2

Summary

This gene encodes a branched chain aminotransferase found in mitochondria. The encoded protein forms a dimer that catalyzes the first step in the production of the branched chain amino acids leucine, isoleucine, and valine. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

Known Variants103 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2034482105	19:49,298,693	A/T	—	uncertain significance
rs145231743	19:49,298,715	T/C	—	uncertain significance
rs781190142	19:49,298,728	A/C	—	uncertain significance
rs71352704	19:49,299,071	C/A	regulatory region variant	—
rs771397384	19:49,299,680	C/T	—	uncertain significance
rs146438052	19:49,299,699	G/A	—	likely benign
rs140856269	19:49,299,705	T/C	—	likely benign
rs150116784	19:49,299,713	C/T	—	uncertain significance
rs781275517	19:49,299,764	G/T	—	benign
rs1568504636	19:49,299,772	G/T	—	likely benign
rs530143373	19:49,299,775	C/T	—	likely benign
rs372960566	19:49,299,776	G/A	—	likely benign
rs35829476	19:49,299,827	C/T	—	benign
rs2514083580	19:49,299,868	G/A	—	likely benign
rs138253411	19:49,299,871	C/T	—	uncertain significance
rs779570956	19:49,299,879	C/T	—	uncertain significance
rs571191767	19:49,299,886	C/T	—	likely benign
rs2514083640	19:49,299,890	C/G	—	uncertain significance
rs1396826790	19:49,299,891	C/T	—	uncertain significance
rs202101618	19:49,299,902	C/T	—	uncertain significance
rs149621078	19:49,299,903	G/C	—	uncertain significance
rs374377249	19:49,299,908	C/G	—	uncertain significance
rs143358538	19:49,299,927	G/A	—	uncertain significance
rs200604464	19:49,299,944	G/C	—	uncertain significance
rs1020482522	19:49,299,947	A/G	—	uncertain significance
rs367714047	19:49,299,961	C/A	—	likely benign
rs1213912704	19:49,299,966	G/A	—	uncertain significance
rs368707614	19:49,300,186	G/A	—	likely benign
rs2514084687	19:49,300,229	C/T	—	uncertain significance
rs750400501	19:49,300,247	C/T	—	conflicting classifications of pathogenicity
rs2514084743	19:49,300,254	C/T	—	likely benign
rs755519492	19:49,300,258	G/A	—	uncertain significance
rs748961972	19:49,300,291	G/C	—	uncertain significance
rs35230038	19:49,300,431	G/A	—	benign
rs1455203509	19:49,300,457	C/T	—	uncertain significance
rs767653663	19:49,300,496	C/T	—	pathogenic
rs139531116	19:49,300,500	G/A	—	benign
rs147444595	19:49,300,511	C/T	—	uncertain significance
rs756889501	19:49,300,512	G/A	—	likely benign
rs749888579	19:49,300,521	C/A	—	likely benign
rs964084155	19:49,300,524	C/G	—	uncertain significance
rs376223693	19:49,300,547	G/A	—	uncertain significance
rs139881168	19:49,300,574	C/T	—	uncertain significance
rs2514085671	19:49,300,592	T/C	—	likely pathogenic
rs1237546175	19:49,300,600	G/A	—	likely benign
rs526744	19:49,300,605	C/T	—	benign
rs752745354	19:49,302,928	T/C	—	uncertain significance
rs150646107	19:49,302,983	G/C	—	conflicting classifications of pathogenicity
rs765961034	19:49,302,996	G/C	—	uncertain significance
rs369994559	19:49,303,003	C/T	—	benign
rs199930503	19:49,303,005	G/A	—	uncertain significance
rs1393183522	19:49,303,011	C/T	—	uncertain significance
rs753659619	19:49,303,027	G/T	—	pathogenic
rs768593940	19:49,303,065	C/T	—	uncertain significance
rs11548193	19:49,303,070	G/C	—	benign
rs2122664642	19:49,303,237	C/T	—	uncertain significance
rs193099355	19:49,303,240	C/T	—	uncertain significance
rs986571893	19:49,303,241	G/A	—	likely benign
rs1171459463	19:49,303,254	A/G	—	uncertain significance
rs911136797	19:49,303,256	A/G	—	likely benign
rs749866079	19:49,303,260	C/T	—	pathogenic
rs377598825	19:49,303,270	G/T	—	uncertain significance
rs377190765	19:49,303,280	G/T	—	likely benign
rs149715085	19:49,303,283	G/A	—	benign
rs1451243861	19:49,303,313	G/T	—	likely benign
rs145585685	19:49,303,352	G/T	—	uncertain significance
rs768134946	19:49,303,371	T/C	—	uncertain significance
rs2122666033	19:49,303,439	C/G	—	uncertain significance
rs2034627179	19:49,303,447	C/T	—	likely benign
rs2034627620	19:49,303,456	G/A	—	likely benign
rs144152530	19:49,303,521	C/T	—	uncertain significance
rs767981357	19:49,303,566	C/T	—	likely benign
rs12985962	19:49,305,421	C/T	intron variant	—
rs200449924	19:49,309,756	G/A	—	likely benign
rs766873285	19:49,309,759	C/T	—	likely benign
rs371062417	19:49,309,760	G/A	—	likely benign
rs755321686	19:49,309,763	C/T	—	likely benign
rs117048185	19:49,309,776	G/C	—	benign
rs1322420040	19:49,309,791	G/A	—	uncertain significance
rs771881228	19:49,309,812	G/A	—	likely benign
rs140816608	19:49,309,814	G/A	—	uncertain significance
rs2514100816	19:49,309,842	G/A	—	uncertain significance
rs142099967	19:49,309,854	C/T	—	uncertain significance
rs2122691935	19:49,309,857	T/C	—	uncertain significance
rs151164360	19:49,309,873	C/A	—	uncertain significance
rs2034788047	19:49,309,876	C/T	—	likely benign
rs768560820	19:49,309,887	C/T	—	uncertain significance
rs777955235	19:49,309,888	G/A	—	likely benign
rs1488926990	19:49,309,898	T/C	—	uncertain significance
rs775856674	19:49,309,921	G/A	—	likely benign
rs760944625	19:49,309,923	G/T	—	uncertain significance
rs2514101175	19:49,309,929	G/A	—	uncertain significance
rs2514101194	19:49,309,932	T/G	—	uncertain significance
rs201148940	19:49,309,937	T/C	—	uncertain significance
rs150243233	19:49,309,952	A/C	—	uncertain significance
rs527706487	19:49,309,988	G/A	—	benign
rs77119210	19:49,310,251	T/C	—	likely benign
rs1301371390	19:49,310,278	T/C	—	uncertain significance
rs770336574	19:49,310,321	C/T	—	uncertain significance
rs150454672	19:49,311,521	T/C	regulatory region variant	—

Showing 100 of 103 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.