Canonical Allele Identifier: CA362183195

Gene: GABRG2

Linked Data

• COSMIC: COSM6307191
• MyVariant Identifiers: chr5:g.161580109T>A (hg19) ; chr5:g.162153103T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153103T>A , CM000667.2:g.162153103T>A	GRCh38
NC_000005.9:g.161580109T>A , CM000667.1:g.161580109T>A	GRCh37
NC_000005.8:g.161512687T>A	NCBI36
NG_009290.1:g.90462T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356592.8:c.1164T>A
ENST00000361925.9:c.1259T>A	ENSP00000354651.5:p.Ile420Asn
ENST00000523372.2:c.1222T>A
ENST00000638253.1:n.417T>A
ENST00000638552.1:c.854T>A	ENSP00000491763.1:p.Ile285Asn
ENST00000638660.1:c.878T>A	ENSP00000492869.1:p.Ile293Asn
ENST00000638772.1:c.*3760T>A	ENSP00000491557.1:n.*3760T>A
ENST00000638877.1:c.1040T>A
ENST00000639046.1:c.530T>A	ENSP00000492659.1:p.Ile177Asn
ENST00000639111.2:c.1139T>A	ENSP00000492125.2:p.Ile380Asn
ENST00000639213.2:c.1163T>A MANE Select	ENSP00000491909.2:p.Ile388Asn
ENST00000639278.1:c.1826T>A	ENSP00000491958.1:n.1826T>A
ENST00000639384.1:c.*1344T>A	ENSP00000491240.1:n.*1344T>A
ENST00000639424.1:c.*363T>A	ENSP00000491245.1:n.*363T>A
ENST00000639683.1:c.1097T>A	ENSP00000492581.1:p.Ile366Asn
ENST00000639975.1:c.1073T>A	ENSP00000492096.1:p.Ile358Asn
ENST00000640500.1:n.437T>A
ENST00000640739.1:n.6110T>A
ENST00000640910.1:c.601T>A
ENST00000640985.1:c.1076T>A	ENSP00000492293.1:p.Ile359Asn
ENST00000641017.1:c.1232T>A	ENSP00000493461.1:p.Ile411Asn
ENST00000356592.7:c.1163T>A	ENSP00000349000.3:p.Ile388Asn
ENST00000361925.8:c.1139T>A	ENSP00000354651.4:p.Ile380Asn
ENST00000414552.6:c.1283T>A	ENSP00000410732.2:p.Ile428Asn
ENST00000522990.5:c.*741T>A	ENSP00000430732.1:n.*741T>A
ENST00000523372.1:c.1260T>A	ENSP00000430124.1:n.1260T>A
NM_000816.3:c.1139T>A	NP_000807.2:p.Ile380Asn
NM_198903.2:c.1283T>A	NP_944493.2:p.Ile428Asn
NM_198904.2:c.1163T>A	NP_944494.1:p.Ile388Asn
NM_001375339.1:c.1154T>A	NP_001362268.1:p.Ile385Asn
NM_001375340.1:c.957T>A	NP_001362269.1:p.His319Gln
NM_001375341.1:c.1160T>A	NP_001362270.1:p.Ile387Asn
NM_001375342.1:c.1136T>A	NP_001362271.1:p.Ile379Asn
NM_001375343.1:c.1259T>A	NP_001362272.1:p.Ile420Asn
NM_001375344.1:c.1202T>A	NP_001362273.1:p.Ile401Asn
NM_001375345.1:c.1073T>A	NP_001362274.1:p.Ile358Asn
NM_001375346.1:c.1097T>A	NP_001362275.1:p.Ile366Asn
NM_001375347.1:c.1076T>A	NP_001362276.1:p.Ile359Asn
NM_001375348.1:c.719T>A	NP_001362277.1:p.Ile240Asn
NM_001375349.1:c.854T>A	NP_001362278.1:p.Ile285Asn
NM_001375350.1:c.743T>A	NP_001362279.1:p.Ile248Asn
NM_198904.3:c.1163T>A	NP_944494.1:p.Ile388Asn
NM_198904.4:c.1163T>A MANE Select	NP_944494.1:p.Ile388Asn