Canonical Allele Identifier: CA362184013

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580316T>A (hg19) ; chr5:g.162153310T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153310T>A , CM000667.2:g.162153310T>A	GRCh38
NC_000005.9:g.161580316T>A , CM000667.1:g.161580316T>A	GRCh37
NC_000005.8:g.161512894T>A	NCBI36
NG_009290.1:g.90669T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1371T>A
ENST00000361925.9:c.1466T>A	ENSP00000354651.5:p.Phe489Tyr
ENST00000523372.2:c.1429T>A
ENST00000638253.1:n.624T>A
ENST00000638552.1:c.1061T>A	ENSP00000491763.1:p.Phe354Tyr
ENST00000638660.1:c.1085T>A	ENSP00000492869.1:p.Phe362Tyr
ENST00000638772.1:c.*3967T>A	ENSP00000491557.1:n.*3967T>A
ENST00000638877.1:c.1247T>A
ENST00000639046.1:c.737T>A	ENSP00000492659.1:p.Phe246Tyr
ENST00000639111.2:c.1346T>A	ENSP00000492125.2:p.Phe449Tyr
ENST00000639213.2:c.1370T>A MANE Select	ENSP00000491909.2:p.Phe457Tyr
ENST00000639278.1:c.2033T>A	ENSP00000491958.1:n.2033T>A
ENST00000639384.1:c.*1551T>A	ENSP00000491240.1:n.*1551T>A
ENST00000639424.1:c.*570T>A	ENSP00000491245.1:n.*570T>A
ENST00000639683.1:c.1304T>A	ENSP00000492581.1:p.Phe435Tyr
ENST00000639975.1:c.1280T>A	ENSP00000492096.1:p.Phe427Tyr
ENST00000640500.1:n.644T>A
ENST00000640739.1:n.6317T>A
ENST00000640910.1:c.808T>A
ENST00000640985.1:c.1283T>A	ENSP00000492293.1:p.Phe428Tyr
ENST00000641017.1:c.1439T>A	ENSP00000493461.1:p.Phe480Tyr
ENST00000356592.7:c.1370T>A	ENSP00000349000.3:p.Phe457Tyr
ENST00000361925.8:c.1346T>A	ENSP00000354651.4:p.Phe449Tyr
ENST00000414552.6:c.1490T>A	ENSP00000410732.2:p.Phe497Tyr
ENST00000522990.5:c.*948T>A	ENSP00000430732.1:n.*948T>A
ENST00000523372.1:c.1467T>A	ENSP00000430124.1:n.1467T>A
NM_000816.3:c.1346T>A	NP_000807.2:p.Phe449Tyr
NM_198903.2:c.1490T>A	NP_944493.2:p.Phe497Tyr
NM_198904.2:c.1370T>A	NP_944494.1:p.Phe457Tyr
NM_001375339.1:c.1361T>A	NP_001362268.1:p.Phe454Tyr
NM_001375340.1:c.*204T>A	NP_001362269.1:n.*204T>A
NM_001375341.1:c.1367T>A	NP_001362270.1:p.Phe456Tyr
NM_001375342.1:c.1343T>A	NP_001362271.1:p.Phe448Tyr
NM_001375343.1:c.1466T>A	NP_001362272.1:p.Phe489Tyr
NM_001375344.1:c.1409T>A	NP_001362273.1:p.Phe470Tyr
NM_001375345.1:c.1280T>A	NP_001362274.1:p.Phe427Tyr
NM_001375346.1:c.1304T>A	NP_001362275.1:p.Phe435Tyr
NM_001375347.1:c.1283T>A	NP_001362276.1:p.Phe428Tyr
NM_001375348.1:c.926T>A	NP_001362277.1:p.Phe309Tyr
NM_001375349.1:c.1061T>A	NP_001362278.1:p.Phe354Tyr
NM_001375350.1:c.950T>A	NP_001362279.1:p.Phe317Tyr
NM_198904.3:c.1370T>A	NP_944494.1:p.Phe457Tyr
NM_198904.4:c.1370T>A MANE Select	NP_944494.1:p.Phe457Tyr