Canonical Allele Identifier: CA447610293

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161576220C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162149214C>T , CM000667.2:g.162149214C>T	GRCh38
NC_000005.9:g.161576220C>T , CM000667.1:g.161576220C>T	GRCh37
NC_000005.8:g.161508798C>T	NCBI36
NG_009290.1:g.86573C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000356592.8:c.1030C>T
ENST00000361925.9:c.1149C>T	ENSP00000354651.5:p.Phe383=
ENST00000523372.2:c.1112C>T
ENST00000638253.1:n.283C>T
ENST00000638552.1:c.744C>T	ENSP00000491763.1:p.Phe248=
ENST00000638660.1:c.744C>T	ENSP00000492869.1:p.Phe248=
ENST00000638772.1:c.1029C>T	ENSP00000491557.1:p.Phe343=
ENST00000638877.1:c.906C>T
ENST00000639046.1:c.420C>T	ENSP00000492659.1:p.Phe140=
ENST00000639111.2:c.1029C>T	ENSP00000492125.2:p.Phe343=
ENST00000639213.2:c.1029C>T MANE Select	ENSP00000491909.2:p.Phe343=
ENST00000639278.1:c.957C>T	ENSP00000491958.1:p.Phe319=
ENST00000639384.1:c.1029C>T	ENSP00000491240.1:p.Phe343=
ENST00000639424.1:c.*229C>T	ENSP00000491245.1:n.*229C>T
ENST00000639683.1:c.963C>T	ENSP00000492581.1:p.Phe321=
ENST00000639975.1:c.963C>T	ENSP00000492096.1:p.Phe321=
ENST00000640500.1:n.327C>T
ENST00000640574.1:c.744C>T	ENSP00000491582.1:p.Phe248=
ENST00000640739.1:n.3560C>T
ENST00000640910.1:c.467C>T
ENST00000640985.1:c.942C>T	ENSP00000492293.1:p.Phe314=
ENST00000641017.1:c.1029C>T	ENSP00000493461.1:p.Phe343=
ENST00000356592.7:c.1029C>T	ENSP00000349000.3:p.Phe343=
ENST00000361925.8:c.1029C>T	ENSP00000354651.4:p.Phe343=
ENST00000414552.6:c.1149C>T	ENSP00000410732.2:p.Phe383=
ENST00000522990.5:c.*631C>T	ENSP00000430732.1:n.*631C>T
ENST00000523372.1:c.1150C>T	ENSP00000430124.1:n.1150C>T
NM_000816.3:c.1029C>T	NP_000807.2:p.Phe343=
NM_198903.2:c.1149C>T	NP_944493.2:p.Phe383=
NM_198904.2:c.1029C>T	NP_944494.1:p.Phe343=
NM_001375339.1:c.1020C>T	NP_001362268.1:p.Phe340=
NM_001375340.1:c.923-2516C>T	NP_001362269.1:n.923-2516C>T
NM_001375341.1:c.1026C>T	NP_001362270.1:p.Phe342=
NM_001375342.1:c.1026C>T	NP_001362271.1:p.Phe342=
NM_001375343.1:c.1149C>T	NP_001362272.1:p.Phe383=
NM_001375344.1:c.1068C>T	NP_001362273.1:p.Phe356=
NM_001375345.1:c.963C>T	NP_001362274.1:p.Phe321=
NM_001375346.1:c.963C>T	NP_001362275.1:p.Phe321=
NM_001375347.1:c.942C>T	NP_001362276.1:p.Phe314=
NM_001375348.1:c.609C>T	NP_001362277.1:p.Phe203=
NM_001375349.1:c.744C>T	NP_001362278.1:p.Phe248=
NM_001375350.1:c.609C>T	NP_001362279.1:p.Phe203=
NM_198904.3:c.1029C>T	NP_944494.1:p.Phe343=
NM_198904.4:c.1029C>T MANE Select	NP_944494.1:p.Phe343=