Canonical Allele Identifier: CA362183599

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580213G>T (hg19) ; chr5:g.162153207G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153207G>T , CM000667.2:g.162153207G>T	GRCh38
NC_000005.9:g.161580213G>T , CM000667.1:g.161580213G>T	GRCh37
NC_000005.8:g.161512791G>T	NCBI36
NG_009290.1:g.90566G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1268G>T
ENST00000361925.9:c.1363G>T	ENSP00000354651.5:p.Ala455Ser
ENST00000523372.2:c.1326G>T
ENST00000638253.1:n.521G>T
ENST00000638552.1:c.958G>T	ENSP00000491763.1:p.Ala320Ser
ENST00000638660.1:c.982G>T	ENSP00000492869.1:p.Ala328Ser
ENST00000638772.1:c.*3864G>T	ENSP00000491557.1:n.*3864G>T
ENST00000638877.1:c.1144G>T
ENST00000639046.1:c.634G>T	ENSP00000492659.1:p.Ala212Ser
ENST00000639111.2:c.1243G>T	ENSP00000492125.2:p.Ala415Ser
ENST00000639213.2:c.1267G>T MANE Select	ENSP00000491909.2:p.Ala423Ser
ENST00000639278.1:c.1930G>T	ENSP00000491958.1:n.1930G>T
ENST00000639384.1:c.*1448G>T	ENSP00000491240.1:n.*1448G>T
ENST00000639424.1:c.*467G>T	ENSP00000491245.1:n.*467G>T
ENST00000639683.1:c.1201G>T	ENSP00000492581.1:p.Ala401Ser
ENST00000639975.1:c.1177G>T	ENSP00000492096.1:p.Ala393Ser
ENST00000640500.1:n.541G>T
ENST00000640739.1:n.6214G>T
ENST00000640910.1:c.705G>T
ENST00000640985.1:c.1180G>T	ENSP00000492293.1:p.Ala394Ser
ENST00000641017.1:c.1336G>T	ENSP00000493461.1:p.Ala446Ser
ENST00000356592.7:c.1267G>T	ENSP00000349000.3:p.Ala423Ser
ENST00000361925.8:c.1243G>T	ENSP00000354651.4:p.Ala415Ser
ENST00000414552.6:c.1387G>T	ENSP00000410732.2:p.Ala463Ser
ENST00000522990.5:c.*845G>T	ENSP00000430732.1:n.*845G>T
ENST00000523372.1:c.1364G>T	ENSP00000430124.1:n.1364G>T
NM_000816.3:c.1243G>T	NP_000807.2:p.Ala415Ser
NM_198903.2:c.1387G>T	NP_944493.2:p.Ala463Ser
NM_198904.2:c.1267G>T	NP_944494.1:p.Ala423Ser
NM_001375339.1:c.1258G>T	NP_001362268.1:p.Ala420Ser
NM_001375340.1:c.*101G>T	NP_001362269.1:n.*101G>T
NM_001375341.1:c.1264G>T	NP_001362270.1:p.Ala422Ser
NM_001375342.1:c.1240G>T	NP_001362271.1:p.Ala414Ser
NM_001375343.1:c.1363G>T	NP_001362272.1:p.Ala455Ser
NM_001375344.1:c.1306G>T	NP_001362273.1:p.Ala436Ser
NM_001375345.1:c.1177G>T	NP_001362274.1:p.Ala393Ser
NM_001375346.1:c.1201G>T	NP_001362275.1:p.Ala401Ser
NM_001375347.1:c.1180G>T	NP_001362276.1:p.Ala394Ser
NM_001375348.1:c.823G>T	NP_001362277.1:p.Ala275Ser
NM_001375349.1:c.958G>T	NP_001362278.1:p.Ala320Ser
NM_001375350.1:c.847G>T	NP_001362279.1:p.Ala283Ser
NM_198904.3:c.1267G>T	NP_944494.1:p.Ala423Ser
NM_198904.4:c.1267G>T MANE Select	NP_944494.1:p.Ala423Ser