Canonical Allele Identifier: CA362184082

Gene: GABRG2

Linked Data

• gnomAD v4: 5-162153325-G-C
• MyVariant Identifiers: chr5:g.161580331G>C (hg19) ; chr5:g.162153325G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153325G>C , CM000667.2:g.162153325G>C	GRCh38
NC_000005.9:g.161580331G>C , CM000667.1:g.161580331G>C	GRCh37
NC_000005.8:g.161512909G>C	NCBI36
NG_009290.1:g.90684G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1386G>C
ENST00000361925.9:c.1481G>C	ENSP00000354651.5:p.Cys494Ser
ENST00000523372.2:c.1444G>C
ENST00000638253.1:n.639G>C
ENST00000638552.1:c.1076G>C	ENSP00000491763.1:p.Cys359Ser
ENST00000638660.1:c.1100G>C	ENSP00000492869.1:p.Cys367Ser
ENST00000638772.1:c.*3982G>C	ENSP00000491557.1:n.*3982G>C
ENST00000638877.1:c.1262G>C
ENST00000639046.1:c.752G>C	ENSP00000492659.1:p.Cys251Ser
ENST00000639111.2:c.1361G>C	ENSP00000492125.2:p.Cys454Ser
ENST00000639213.2:c.1385G>C MANE Select	ENSP00000491909.2:p.Cys462Ser
ENST00000639278.1:c.2048G>C	ENSP00000491958.1:n.2048G>C
ENST00000639384.1:c.*1566G>C	ENSP00000491240.1:n.*1566G>C
ENST00000639424.1:c.*585G>C	ENSP00000491245.1:n.*585G>C
ENST00000639683.1:c.1319G>C	ENSP00000492581.1:p.Cys440Ser
ENST00000639975.1:c.1295G>C	ENSP00000492096.1:p.Cys432Ser
ENST00000640500.1:n.659G>C
ENST00000640739.1:n.6332G>C
ENST00000640910.1:c.823G>C
ENST00000640985.1:c.1298G>C	ENSP00000492293.1:p.Cys433Ser
ENST00000641017.1:c.1454G>C	ENSP00000493461.1:p.Cys485Ser
ENST00000356592.7:c.1385G>C	ENSP00000349000.3:p.Cys462Ser
ENST00000361925.8:c.1361G>C	ENSP00000354651.4:p.Cys454Ser
ENST00000414552.6:c.1505G>C	ENSP00000410732.2:p.Cys502Ser
ENST00000522990.5:c.*963G>C	ENSP00000430732.1:n.*963G>C
ENST00000523372.1:c.1482G>C	ENSP00000430124.1:n.1482G>C
NM_000816.3:c.1361G>C	NP_000807.2:p.Cys454Ser
NM_198903.2:c.1505G>C	NP_944493.2:p.Cys502Ser
NM_198904.2:c.1385G>C	NP_944494.1:p.Cys462Ser
NM_001375339.1:c.1376G>C	NP_001362268.1:p.Cys459Ser
NM_001375340.1:c.*219G>C	NP_001362269.1:n.*219G>C
NM_001375341.1:c.1382G>C	NP_001362270.1:p.Cys461Ser
NM_001375342.1:c.1358G>C	NP_001362271.1:p.Cys453Ser
NM_001375343.1:c.1481G>C	NP_001362272.1:p.Cys494Ser
NM_001375344.1:c.1424G>C	NP_001362273.1:p.Cys475Ser
NM_001375345.1:c.1295G>C	NP_001362274.1:p.Cys432Ser
NM_001375346.1:c.1319G>C	NP_001362275.1:p.Cys440Ser
NM_001375347.1:c.1298G>C	NP_001362276.1:p.Cys433Ser
NM_001375348.1:c.941G>C	NP_001362277.1:p.Cys314Ser
NM_001375349.1:c.1076G>C	NP_001362278.1:p.Cys359Ser
NM_001375350.1:c.965G>C	NP_001362279.1:p.Cys322Ser
NM_198904.3:c.1385G>C	NP_944494.1:p.Cys462Ser
NM_198904.4:c.1385G>C MANE Select	NP_944494.1:p.Cys462Ser