Canonical Allele Identifier: CA362184196

Gene: GABRG2

Linked Data

• ClinVar Variation Id: 2945546
• ClinVar RCV Id: RCV003803640
• MyVariant Identifiers: chr5:g.161580355T>C (hg19) ; chr5:g.162153349T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153349T>C , CM000667.2:g.162153349T>C	GRCh38
NC_000005.9:g.161580355T>C , CM000667.1:g.161580355T>C	GRCh37
NC_000005.8:g.161512933T>C	NCBI36
NG_009290.1:g.90708T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1410T>C
ENST00000361925.9:c.1505T>C	ENSP00000354651.5:p.Val502Ala
ENST00000523372.2:c.1468T>C
ENST00000638253.1:n.663T>C
ENST00000638552.1:c.1100T>C	ENSP00000491763.1:p.Val367Ala
ENST00000638660.1:c.1124T>C	ENSP00000492869.1:p.Val375Ala
ENST00000638772.1:c.*4006T>C	ENSP00000491557.1:n.*4006T>C
ENST00000638877.1:c.1286T>C
ENST00000639046.1:c.776T>C	ENSP00000492659.1:p.Val259Ala
ENST00000639111.2:c.1385T>C	ENSP00000492125.2:p.Val462Ala
ENST00000639213.2:c.1409T>C MANE Select	ENSP00000491909.2:p.Val470Ala
ENST00000639278.1:c.2072T>C	ENSP00000491958.1:n.2072T>C
ENST00000639384.1:c.*1590T>C	ENSP00000491240.1:n.*1590T>C
ENST00000639424.1:c.*609T>C	ENSP00000491245.1:n.*609T>C
ENST00000639683.1:c.1343T>C	ENSP00000492581.1:p.Val448Ala
ENST00000639975.1:c.1319T>C	ENSP00000492096.1:p.Val440Ala
ENST00000640500.1:n.683T>C
ENST00000640739.1:n.6356T>C
ENST00000640910.1:c.847T>C
ENST00000640985.1:c.1322T>C	ENSP00000492293.1:p.Val441Ala
ENST00000641017.1:c.1478T>C	ENSP00000493461.1:p.Val493Ala
ENST00000356592.7:c.1409T>C	ENSP00000349000.3:p.Val470Ala
ENST00000361925.8:c.1385T>C	ENSP00000354651.4:p.Val462Ala
ENST00000414552.6:c.1529T>C	ENSP00000410732.2:p.Val510Ala
ENST00000522990.5:c.*987T>C	ENSP00000430732.1:n.*987T>C
ENST00000523372.1:c.1506T>C	ENSP00000430124.1:n.1506T>C
NM_000816.3:c.1385T>C	NP_000807.2:p.Val462Ala
NM_198903.2:c.1529T>C	NP_944493.2:p.Val510Ala
NM_198904.2:c.1409T>C	NP_944494.1:p.Val470Ala
NM_001375339.1:c.1400T>C	NP_001362268.1:p.Val467Ala
NM_001375340.1:c.*243T>C	NP_001362269.1:n.*243T>C
NM_001375341.1:c.1406T>C	NP_001362270.1:p.Val469Ala
NM_001375342.1:c.1382T>C	NP_001362271.1:p.Val461Ala
NM_001375343.1:c.1505T>C	NP_001362272.1:p.Val502Ala
NM_001375344.1:c.1448T>C	NP_001362273.1:p.Val483Ala
NM_001375345.1:c.1319T>C	NP_001362274.1:p.Val440Ala
NM_001375346.1:c.1343T>C	NP_001362275.1:p.Val448Ala
NM_001375347.1:c.1322T>C	NP_001362276.1:p.Val441Ala
NM_001375348.1:c.965T>C	NP_001362277.1:p.Val322Ala
NM_001375349.1:c.1100T>C	NP_001362278.1:p.Val367Ala
NM_001375350.1:c.989T>C	NP_001362279.1:p.Val330Ala
NM_198904.3:c.1409T>C	NP_944494.1:p.Val470Ala
NM_198904.4:c.1409T>C MANE Select	NP_944494.1:p.Val470Ala