Canonical Allele Identifier: CA447691794

Gene: GABRG2

Linked Data

• dbSNP Id: rs1765499567
• gnomAD v4: 5-162153206-T-C
• MyVariant Identifiers: chr5:g.161580212T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153206T>C , CM000667.2:g.162153206T>C	GRCh38
NC_000005.9:g.161580212T>C , CM000667.1:g.161580212T>C	GRCh37
NC_000005.8:g.161512790T>C	NCBI36
NG_009290.1:g.90565T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1267T>C
ENST00000361925.9:c.1362T>C	ENSP00000354651.5:p.Cys454=
ENST00000523372.2:c.1325T>C
ENST00000638253.1:n.520T>C
ENST00000638552.1:c.957T>C	ENSP00000491763.1:p.Cys319=
ENST00000638660.1:c.981T>C	ENSP00000492869.1:p.Cys327=
ENST00000638772.1:c.*3863T>C	ENSP00000491557.1:n.*3863T>C
ENST00000638877.1:c.1143T>C
ENST00000639046.1:c.633T>C	ENSP00000492659.1:p.Cys211=
ENST00000639111.2:c.1242T>C	ENSP00000492125.2:p.Cys414=
ENST00000639213.2:c.1266T>C MANE Select	ENSP00000491909.2:p.Cys422=
ENST00000639278.1:c.1929T>C	ENSP00000491958.1:n.1929T>C
ENST00000639384.1:c.*1447T>C	ENSP00000491240.1:n.*1447T>C
ENST00000639424.1:c.*466T>C	ENSP00000491245.1:n.*466T>C
ENST00000639683.1:c.1200T>C	ENSP00000492581.1:p.Cys400=
ENST00000639975.1:c.1176T>C	ENSP00000492096.1:p.Cys392=
ENST00000640500.1:n.540T>C
ENST00000640739.1:n.6213T>C
ENST00000640910.1:c.704T>C
ENST00000640985.1:c.1179T>C	ENSP00000492293.1:p.Cys393=
ENST00000641017.1:c.1335T>C	ENSP00000493461.1:p.Cys445=
ENST00000356592.7:c.1266T>C	ENSP00000349000.3:p.Cys422=
ENST00000361925.8:c.1242T>C	ENSP00000354651.4:p.Cys414=
ENST00000414552.6:c.1386T>C	ENSP00000410732.2:p.Cys462=
ENST00000522990.5:c.*844T>C	ENSP00000430732.1:n.*844T>C
ENST00000523372.1:c.1363T>C	ENSP00000430124.1:n.1363T>C
NM_000816.3:c.1242T>C	NP_000807.2:p.Cys414=
NM_198903.2:c.1386T>C	NP_944493.2:p.Cys462=
NM_198904.2:c.1266T>C	NP_944494.1:p.Cys422=
NM_001375339.1:c.1257T>C	NP_001362268.1:p.Cys419=
NM_001375340.1:c.*100T>C	NP_001362269.1:n.*100T>C
NM_001375341.1:c.1263T>C	NP_001362270.1:p.Cys421=
NM_001375342.1:c.1239T>C	NP_001362271.1:p.Cys413=
NM_001375343.1:c.1362T>C	NP_001362272.1:p.Cys454=
NM_001375344.1:c.1305T>C	NP_001362273.1:p.Cys435=
NM_001375345.1:c.1176T>C	NP_001362274.1:p.Cys392=
NM_001375346.1:c.1200T>C	NP_001362275.1:p.Cys400=
NM_001375347.1:c.1179T>C	NP_001362276.1:p.Cys393=
NM_001375348.1:c.822T>C	NP_001362277.1:p.Cys274=
NM_001375349.1:c.957T>C	NP_001362278.1:p.Cys319=
NM_001375350.1:c.846T>C	NP_001362279.1:p.Cys282=
NM_198904.3:c.1266T>C	NP_944494.1:p.Cys422=
NM_198904.4:c.1266T>C MANE Select	NP_944494.1:p.Cys422=