Canonical Allele Identifier: CA362183205

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580113T>G (hg19) ; chr5:g.162153107T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153107T>G , CM000667.2:g.162153107T>G	GRCh38
NC_000005.9:g.161580113T>G , CM000667.1:g.161580113T>G	GRCh37
NC_000005.8:g.161512691T>G	NCBI36
NG_009290.1:g.90466T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356592.8:c.1168T>G
ENST00000361925.9:c.1263T>G	ENSP00000354651.5:p.Asp421Glu
ENST00000523372.2:c.1226T>G
ENST00000638253.1:n.421T>G
ENST00000638552.1:c.858T>G	ENSP00000491763.1:p.Asp286Glu
ENST00000638660.1:c.882T>G	ENSP00000492869.1:p.Asp294Glu
ENST00000638772.1:c.*3764T>G	ENSP00000491557.1:n.*3764T>G
ENST00000638877.1:c.1044T>G
ENST00000639046.1:c.534T>G	ENSP00000492659.1:p.Asp178Glu
ENST00000639111.2:c.1143T>G	ENSP00000492125.2:p.Asp381Glu
ENST00000639213.2:c.1167T>G MANE Select	ENSP00000491909.2:p.Asp389Glu
ENST00000639278.1:c.1830T>G	ENSP00000491958.1:n.1830T>G
ENST00000639384.1:c.*1348T>G	ENSP00000491240.1:n.*1348T>G
ENST00000639424.1:c.*367T>G	ENSP00000491245.1:n.*367T>G
ENST00000639683.1:c.1101T>G	ENSP00000492581.1:p.Asp367Glu
ENST00000639975.1:c.1077T>G	ENSP00000492096.1:p.Asp359Glu
ENST00000640500.1:n.441T>G
ENST00000640739.1:n.6114T>G
ENST00000640910.1:c.605T>G
ENST00000640985.1:c.1080T>G	ENSP00000492293.1:p.Asp360Glu
ENST00000641017.1:c.1236T>G	ENSP00000493461.1:p.Asp412Glu
ENST00000356592.7:c.1167T>G	ENSP00000349000.3:p.Asp389Glu
ENST00000361925.8:c.1143T>G	ENSP00000354651.4:p.Asp381Glu
ENST00000414552.6:c.1287T>G	ENSP00000410732.2:p.Asp429Glu
ENST00000522990.5:c.*745T>G	ENSP00000430732.1:n.*745T>G
ENST00000523372.1:c.1264T>G	ENSP00000430124.1:n.1264T>G
NM_000816.3:c.1143T>G	NP_000807.2:p.Asp381Glu
NM_198903.2:c.1287T>G	NP_944493.2:p.Asp429Glu
NM_198904.2:c.1167T>G	NP_944494.1:p.Asp389Glu
NM_001375339.1:c.1158T>G	NP_001362268.1:p.Asp386Glu
NM_001375340.1:c.*1T>G	NP_001362269.1:n.*1T>G
NM_001375341.1:c.1164T>G	NP_001362270.1:p.Asp388Glu
NM_001375342.1:c.1140T>G	NP_001362271.1:p.Asp380Glu
NM_001375343.1:c.1263T>G	NP_001362272.1:p.Asp421Glu
NM_001375344.1:c.1206T>G	NP_001362273.1:p.Asp402Glu
NM_001375345.1:c.1077T>G	NP_001362274.1:p.Asp359Glu
NM_001375346.1:c.1101T>G	NP_001362275.1:p.Asp367Glu
NM_001375347.1:c.1080T>G	NP_001362276.1:p.Asp360Glu
NM_001375348.1:c.723T>G	NP_001362277.1:p.Asp241Glu
NM_001375349.1:c.858T>G	NP_001362278.1:p.Asp286Glu
NM_001375350.1:c.747T>G	NP_001362279.1:p.Asp249Glu
NM_198904.3:c.1167T>G	NP_944494.1:p.Asp389Glu
NM_198904.4:c.1167T>G MANE Select	NP_944494.1:p.Asp389Glu