Canonical Allele Identifier: CA362183606

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580217G>C (hg19) ; chr5:g.162153211G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153211G>C , CM000667.2:g.162153211G>C	GRCh38
NC_000005.9:g.161580217G>C , CM000667.1:g.161580217G>C	GRCh37
NC_000005.8:g.161512795G>C	NCBI36
NG_009290.1:g.90570G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1272G>C
ENST00000361925.9:c.1367G>C	ENSP00000354651.5:p.Ser456Thr
ENST00000523372.2:c.1330G>C
ENST00000638253.1:n.525G>C
ENST00000638552.1:c.962G>C	ENSP00000491763.1:p.Ser321Thr
ENST00000638660.1:c.986G>C	ENSP00000492869.1:p.Ser329Thr
ENST00000638772.1:c.*3868G>C	ENSP00000491557.1:n.*3868G>C
ENST00000638877.1:c.1148G>C
ENST00000639046.1:c.638G>C	ENSP00000492659.1:p.Ser213Thr
ENST00000639111.2:c.1247G>C	ENSP00000492125.2:p.Ser416Thr
ENST00000639213.2:c.1271G>C MANE Select	ENSP00000491909.2:p.Ser424Thr
ENST00000639278.1:c.1934G>C	ENSP00000491958.1:n.1934G>C
ENST00000639384.1:c.*1452G>C	ENSP00000491240.1:n.*1452G>C
ENST00000639424.1:c.*471G>C	ENSP00000491245.1:n.*471G>C
ENST00000639683.1:c.1205G>C	ENSP00000492581.1:p.Ser402Thr
ENST00000639975.1:c.1181G>C	ENSP00000492096.1:p.Ser394Thr
ENST00000640500.1:n.545G>C
ENST00000640739.1:n.6218G>C
ENST00000640910.1:c.709G>C
ENST00000640985.1:c.1184G>C	ENSP00000492293.1:p.Ser395Thr
ENST00000641017.1:c.1340G>C	ENSP00000493461.1:p.Ser447Thr
ENST00000356592.7:c.1271G>C	ENSP00000349000.3:p.Ser424Thr
ENST00000361925.8:c.1247G>C	ENSP00000354651.4:p.Ser416Thr
ENST00000414552.6:c.1391G>C	ENSP00000410732.2:p.Ser464Thr
ENST00000522990.5:c.*849G>C	ENSP00000430732.1:n.*849G>C
ENST00000523372.1:c.1368G>C	ENSP00000430124.1:n.1368G>C
NM_000816.3:c.1247G>C	NP_000807.2:p.Ser416Thr
NM_198903.2:c.1391G>C	NP_944493.2:p.Ser464Thr
NM_198904.2:c.1271G>C	NP_944494.1:p.Ser424Thr
NM_001375339.1:c.1262G>C	NP_001362268.1:p.Ser421Thr
NM_001375340.1:c.*105G>C	NP_001362269.1:n.*105G>C
NM_001375341.1:c.1268G>C	NP_001362270.1:p.Ser423Thr
NM_001375342.1:c.1244G>C	NP_001362271.1:p.Ser415Thr
NM_001375343.1:c.1367G>C	NP_001362272.1:p.Ser456Thr
NM_001375344.1:c.1310G>C	NP_001362273.1:p.Ser437Thr
NM_001375345.1:c.1181G>C	NP_001362274.1:p.Ser394Thr
NM_001375346.1:c.1205G>C	NP_001362275.1:p.Ser402Thr
NM_001375347.1:c.1184G>C	NP_001362276.1:p.Ser395Thr
NM_001375348.1:c.827G>C	NP_001362277.1:p.Ser276Thr
NM_001375349.1:c.962G>C	NP_001362278.1:p.Ser321Thr
NM_001375350.1:c.851G>C	NP_001362279.1:p.Ser284Thr
NM_198904.3:c.1271G>C	NP_944494.1:p.Ser424Thr
NM_198904.4:c.1271G>C MANE Select	NP_944494.1:p.Ser424Thr