Canonical Allele Identifier: CA362183797

Gene: GABRG2

Linked Data

• COSMIC: COSM4952910
• MyVariant Identifiers: chr5:g.161580264G>T (hg19) ; chr5:g.162153258G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153258G>T , CM000667.2:g.162153258G>T	GRCh38
NC_000005.9:g.161580264G>T , CM000667.1:g.161580264G>T	GRCh37
NC_000005.8:g.161512842G>T	NCBI36
NG_009290.1:g.90617G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1319G>T
ENST00000361925.9:c.1414G>T	ENSP00000354651.5:p.Gly472Trp
ENST00000523372.2:c.1377G>T
ENST00000638253.1:n.572G>T
ENST00000638552.1:c.1009G>T	ENSP00000491763.1:p.Gly337Trp
ENST00000638660.1:c.1033G>T	ENSP00000492869.1:p.Gly345Trp
ENST00000638772.1:c.*3915G>T	ENSP00000491557.1:n.*3915G>T
ENST00000638877.1:c.1195G>T
ENST00000639046.1:c.685G>T	ENSP00000492659.1:p.Gly229Trp
ENST00000639111.2:c.1294G>T	ENSP00000492125.2:p.Gly432Trp
ENST00000639213.2:c.1318G>T MANE Select	ENSP00000491909.2:p.Gly440Trp
ENST00000639278.1:c.1981G>T	ENSP00000491958.1:n.1981G>T
ENST00000639384.1:c.*1499G>T	ENSP00000491240.1:n.*1499G>T
ENST00000639424.1:c.*518G>T	ENSP00000491245.1:n.*518G>T
ENST00000639683.1:c.1252G>T	ENSP00000492581.1:p.Gly418Trp
ENST00000639975.1:c.1228G>T	ENSP00000492096.1:p.Gly410Trp
ENST00000640500.1:n.592G>T
ENST00000640739.1:n.6265G>T
ENST00000640910.1:c.756G>T
ENST00000640985.1:c.1231G>T	ENSP00000492293.1:p.Gly411Trp
ENST00000641017.1:c.1387G>T	ENSP00000493461.1:p.Gly463Trp
ENST00000356592.7:c.1318G>T	ENSP00000349000.3:p.Gly440Trp
ENST00000361925.8:c.1294G>T	ENSP00000354651.4:p.Gly432Trp
ENST00000414552.6:c.1438G>T	ENSP00000410732.2:p.Gly480Trp
ENST00000522990.5:c.*896G>T	ENSP00000430732.1:n.*896G>T
ENST00000523372.1:c.1415G>T	ENSP00000430124.1:n.1415G>T
NM_000816.3:c.1294G>T	NP_000807.2:p.Gly432Trp
NM_198903.2:c.1438G>T	NP_944493.2:p.Gly480Trp
NM_198904.2:c.1318G>T	NP_944494.1:p.Gly440Trp
NM_001375339.1:c.1309G>T	NP_001362268.1:p.Gly437Trp
NM_001375340.1:c.*152G>T	NP_001362269.1:n.*152G>T
NM_001375341.1:c.1315G>T	NP_001362270.1:p.Gly439Trp
NM_001375342.1:c.1291G>T	NP_001362271.1:p.Gly431Trp
NM_001375343.1:c.1414G>T	NP_001362272.1:p.Gly472Trp
NM_001375344.1:c.1357G>T	NP_001362273.1:p.Gly453Trp
NM_001375345.1:c.1228G>T	NP_001362274.1:p.Gly410Trp
NM_001375346.1:c.1252G>T	NP_001362275.1:p.Gly418Trp
NM_001375347.1:c.1231G>T	NP_001362276.1:p.Gly411Trp
NM_001375348.1:c.874G>T	NP_001362277.1:p.Gly292Trp
NM_001375349.1:c.1009G>T	NP_001362278.1:p.Gly337Trp
NM_001375350.1:c.898G>T	NP_001362279.1:p.Gly300Trp
NM_198904.3:c.1318G>T	NP_944494.1:p.Gly440Trp
NM_198904.4:c.1318G>T MANE Select	NP_944494.1:p.Gly440Trp