Canonical Allele Identifier: CA362184022

Gene: GABRG2

Linked Data

• COSMIC: COSM3613601
• MyVariant Identifiers: chr5:g.161580318C>T (hg19) ; chr5:g.162153312C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153312C>T , CM000667.2:g.162153312C>T	GRCh38
NC_000005.9:g.161580318C>T , CM000667.1:g.161580318C>T	GRCh37
NC_000005.8:g.161512896C>T	NCBI36
NG_009290.1:g.90671C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1373C>T
ENST00000361925.9:c.1468C>T	ENSP00000354651.5:p.Pro490Ser
ENST00000523372.2:c.1431C>T
ENST00000638253.1:n.626C>T
ENST00000638552.1:c.1063C>T	ENSP00000491763.1:p.Pro355Ser
ENST00000638660.1:c.1087C>T	ENSP00000492869.1:p.Pro363Ser
ENST00000638772.1:c.*3969C>T	ENSP00000491557.1:n.*3969C>T
ENST00000638877.1:c.1249C>T
ENST00000639046.1:c.739C>T	ENSP00000492659.1:p.Pro247Ser
ENST00000639111.2:c.1348C>T	ENSP00000492125.2:p.Pro450Ser
ENST00000639213.2:c.1372C>T MANE Select	ENSP00000491909.2:p.Pro458Ser
ENST00000639278.1:c.2035C>T	ENSP00000491958.1:n.2035C>T
ENST00000639384.1:c.*1553C>T	ENSP00000491240.1:n.*1553C>T
ENST00000639424.1:c.*572C>T	ENSP00000491245.1:n.*572C>T
ENST00000639683.1:c.1306C>T	ENSP00000492581.1:p.Pro436Ser
ENST00000639975.1:c.1282C>T	ENSP00000492096.1:p.Pro428Ser
ENST00000640500.1:n.646C>T
ENST00000640739.1:n.6319C>T
ENST00000640910.1:c.810C>T
ENST00000640985.1:c.1285C>T	ENSP00000492293.1:p.Pro429Ser
ENST00000641017.1:c.1441C>T	ENSP00000493461.1:p.Pro481Ser
ENST00000356592.7:c.1372C>T	ENSP00000349000.3:p.Pro458Ser
ENST00000361925.8:c.1348C>T	ENSP00000354651.4:p.Pro450Ser
ENST00000414552.6:c.1492C>T	ENSP00000410732.2:p.Pro498Ser
ENST00000522990.5:c.*950C>T	ENSP00000430732.1:n.*950C>T
ENST00000523372.1:c.1469C>T	ENSP00000430124.1:n.1469C>T
NM_000816.3:c.1348C>T	NP_000807.2:p.Pro450Ser
NM_198903.2:c.1492C>T	NP_944493.2:p.Pro498Ser
NM_198904.2:c.1372C>T	NP_944494.1:p.Pro458Ser
NM_001375339.1:c.1363C>T	NP_001362268.1:p.Pro455Ser
NM_001375340.1:c.*206C>T	NP_001362269.1:n.*206C>T
NM_001375341.1:c.1369C>T	NP_001362270.1:p.Pro457Ser
NM_001375342.1:c.1345C>T	NP_001362271.1:p.Pro449Ser
NM_001375343.1:c.1468C>T	NP_001362272.1:p.Pro490Ser
NM_001375344.1:c.1411C>T	NP_001362273.1:p.Pro471Ser
NM_001375345.1:c.1282C>T	NP_001362274.1:p.Pro428Ser
NM_001375346.1:c.1306C>T	NP_001362275.1:p.Pro436Ser
NM_001375347.1:c.1285C>T	NP_001362276.1:p.Pro429Ser
NM_001375348.1:c.928C>T	NP_001362277.1:p.Pro310Ser
NM_001375349.1:c.1063C>T	NP_001362278.1:p.Pro355Ser
NM_001375350.1:c.952C>T	NP_001362279.1:p.Pro318Ser
NM_198904.3:c.1372C>T	NP_944494.1:p.Pro458Ser
NM_198904.4:c.1372C>T MANE Select	NP_944494.1:p.Pro458Ser