Canonical Allele Identifier: CA362183581

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580207G>C (hg19) ; chr5:g.162153201G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153201G>C , CM000667.2:g.162153201G>C	GRCh38
NC_000005.9:g.161580207G>C , CM000667.1:g.161580207G>C	GRCh37
NC_000005.8:g.161512785G>C	NCBI36
NG_009290.1:g.90560G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1262G>C
ENST00000361925.9:c.1357G>C	ENSP00000354651.5:p.Asp453His
ENST00000523372.2:c.1320G>C
ENST00000638253.1:n.515G>C
ENST00000638552.1:c.952G>C	ENSP00000491763.1:p.Asp318His
ENST00000638660.1:c.976G>C	ENSP00000492869.1:p.Asp326His
ENST00000638772.1:c.*3858G>C	ENSP00000491557.1:n.*3858G>C
ENST00000638877.1:c.1138G>C
ENST00000639046.1:c.628G>C	ENSP00000492659.1:p.Asp210His
ENST00000639111.2:c.1237G>C	ENSP00000492125.2:p.Asp413His
ENST00000639213.2:c.1261G>C MANE Select	ENSP00000491909.2:p.Asp421His
ENST00000639278.1:c.1924G>C	ENSP00000491958.1:n.1924G>C
ENST00000639384.1:c.*1442G>C	ENSP00000491240.1:n.*1442G>C
ENST00000639424.1:c.*461G>C	ENSP00000491245.1:n.*461G>C
ENST00000639683.1:c.1195G>C	ENSP00000492581.1:p.Asp399His
ENST00000639975.1:c.1171G>C	ENSP00000492096.1:p.Asp391His
ENST00000640500.1:n.535G>C
ENST00000640739.1:n.6208G>C
ENST00000640910.1:c.699G>C
ENST00000640985.1:c.1174G>C	ENSP00000492293.1:p.Asp392His
ENST00000641017.1:c.1330G>C	ENSP00000493461.1:p.Asp444His
ENST00000356592.7:c.1261G>C	ENSP00000349000.3:p.Asp421His
ENST00000361925.8:c.1237G>C	ENSP00000354651.4:p.Asp413His
ENST00000414552.6:c.1381G>C	ENSP00000410732.2:p.Asp461His
ENST00000522990.5:c.*839G>C	ENSP00000430732.1:n.*839G>C
ENST00000523372.1:c.1358G>C	ENSP00000430124.1:n.1358G>C
NM_000816.3:c.1237G>C	NP_000807.2:p.Asp413His
NM_198903.2:c.1381G>C	NP_944493.2:p.Asp461His
NM_198904.2:c.1261G>C	NP_944494.1:p.Asp421His
NM_001375339.1:c.1252G>C	NP_001362268.1:p.Asp418His
NM_001375340.1:c.*95G>C	NP_001362269.1:n.*95G>C
NM_001375341.1:c.1258G>C	NP_001362270.1:p.Asp420His
NM_001375342.1:c.1234G>C	NP_001362271.1:p.Asp412His
NM_001375343.1:c.1357G>C	NP_001362272.1:p.Asp453His
NM_001375344.1:c.1300G>C	NP_001362273.1:p.Asp434His
NM_001375345.1:c.1171G>C	NP_001362274.1:p.Asp391His
NM_001375346.1:c.1195G>C	NP_001362275.1:p.Asp399His
NM_001375347.1:c.1174G>C	NP_001362276.1:p.Asp392His
NM_001375348.1:c.817G>C	NP_001362277.1:p.Asp273His
NM_001375349.1:c.952G>C	NP_001362278.1:p.Asp318His
NM_001375350.1:c.841G>C	NP_001362279.1:p.Asp281His
NM_198904.3:c.1261G>C	NP_944494.1:p.Asp421His
NM_198904.4:c.1261G>C MANE Select	NP_944494.1:p.Asp421His