Canonical Allele Identifier: CA362183561

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580198G>C (hg19) ; chr5:g.162153192G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153192G>C , CM000667.2:g.162153192G>C	GRCh38
NC_000005.9:g.161580198G>C , CM000667.1:g.161580198G>C	GRCh37
NC_000005.8:g.161512776G>C	NCBI36
NG_009290.1:g.90551G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1253G>C
ENST00000361925.9:c.1348G>C	ENSP00000354651.5:p.Asp450His
ENST00000523372.2:c.1311G>C
ENST00000638253.1:n.506G>C
ENST00000638552.1:c.943G>C	ENSP00000491763.1:p.Asp315His
ENST00000638660.1:c.967G>C	ENSP00000492869.1:p.Asp323His
ENST00000638772.1:c.*3849G>C	ENSP00000491557.1:n.*3849G>C
ENST00000638877.1:c.1129G>C
ENST00000639046.1:c.619G>C	ENSP00000492659.1:p.Asp207His
ENST00000639111.2:c.1228G>C	ENSP00000492125.2:p.Asp410His
ENST00000639213.2:c.1252G>C MANE Select	ENSP00000491909.2:p.Asp418His
ENST00000639278.1:c.1915G>C	ENSP00000491958.1:n.1915G>C
ENST00000639384.1:c.*1433G>C	ENSP00000491240.1:n.*1433G>C
ENST00000639424.1:c.*452G>C	ENSP00000491245.1:n.*452G>C
ENST00000639683.1:c.1186G>C	ENSP00000492581.1:p.Asp396His
ENST00000639975.1:c.1162G>C	ENSP00000492096.1:p.Asp388His
ENST00000640500.1:n.526G>C
ENST00000640739.1:n.6199G>C
ENST00000640910.1:c.690G>C
ENST00000640985.1:c.1165G>C	ENSP00000492293.1:p.Asp389His
ENST00000641017.1:c.1321G>C	ENSP00000493461.1:p.Asp441His
ENST00000356592.7:c.1252G>C	ENSP00000349000.3:p.Asp418His
ENST00000361925.8:c.1228G>C	ENSP00000354651.4:p.Asp410His
ENST00000414552.6:c.1372G>C	ENSP00000410732.2:p.Asp458His
ENST00000522990.5:c.*830G>C	ENSP00000430732.1:n.*830G>C
ENST00000523372.1:c.1349G>C	ENSP00000430124.1:n.1349G>C
NM_000816.3:c.1228G>C	NP_000807.2:p.Asp410His
NM_198903.2:c.1372G>C	NP_944493.2:p.Asp458His
NM_198904.2:c.1252G>C	NP_944494.1:p.Asp418His
NM_001375339.1:c.1243G>C	NP_001362268.1:p.Asp415His
NM_001375340.1:c.*86G>C	NP_001362269.1:n.*86G>C
NM_001375341.1:c.1249G>C	NP_001362270.1:p.Asp417His
NM_001375342.1:c.1225G>C	NP_001362271.1:p.Asp409His
NM_001375343.1:c.1348G>C	NP_001362272.1:p.Asp450His
NM_001375344.1:c.1291G>C	NP_001362273.1:p.Asp431His
NM_001375345.1:c.1162G>C	NP_001362274.1:p.Asp388His
NM_001375346.1:c.1186G>C	NP_001362275.1:p.Asp396His
NM_001375347.1:c.1165G>C	NP_001362276.1:p.Asp389His
NM_001375348.1:c.808G>C	NP_001362277.1:p.Asp270His
NM_001375349.1:c.943G>C	NP_001362278.1:p.Asp315His
NM_001375350.1:c.832G>C	NP_001362279.1:p.Asp278His
NM_198904.3:c.1252G>C	NP_944494.1:p.Asp418His
NM_198904.4:c.1252G>C MANE Select	NP_944494.1:p.Asp418His