Canonical Allele Identifier: CA447691809
Gene: GABRG2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.161580224C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.162153218C>T , CM000667.2:g.162153218C>T GRCh38
NC_000005.9:g.161580224C>T , CM000667.1:g.161580224C>T GRCh37
NC_000005.8:g.161512802C>T NCBI36
NG_009290.1:g.90577C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356592.8:c.1279C>T
ENST00000361925.9:c.1374C>T ENSP00000354651.5:p.Phe458=
ENST00000523372.2:c.1337C>T
ENST00000638253.1:n.532C>T
ENST00000638552.1:c.969C>T ENSP00000491763.1:p.Phe323=
ENST00000638660.1:c.993C>T ENSP00000492869.1:p.Phe331=
ENST00000638772.1:c.*3875C>T ENSP00000491557.1:n.*3875C>T
ENST00000638877.1:c.1155C>T
ENST00000639046.1:c.645C>T ENSP00000492659.1:p.Phe215=
ENST00000639111.2:c.1254C>T ENSP00000492125.2:p.Phe418=
ENST00000639213.2:c.1278C>T MANE Select ENSP00000491909.2:p.Phe426=
ENST00000639278.1:c.1941C>T ENSP00000491958.1:n.1941C>T
ENST00000639384.1:c.*1459C>T ENSP00000491240.1:n.*1459C>T
ENST00000639424.1:c.*478C>T ENSP00000491245.1:n.*478C>T
ENST00000639683.1:c.1212C>T ENSP00000492581.1:p.Phe404=
ENST00000639975.1:c.1188C>T ENSP00000492096.1:p.Phe396=
ENST00000640500.1:n.552C>T
ENST00000640739.1:n.6225C>T
ENST00000640910.1:c.716C>T
ENST00000640985.1:c.1191C>T ENSP00000492293.1:p.Phe397=
ENST00000641017.1:c.1347C>T ENSP00000493461.1:p.Phe449=
ENST00000356592.7:c.1278C>T ENSP00000349000.3:p.Phe426=
ENST00000361925.8:c.1254C>T ENSP00000354651.4:p.Phe418=
ENST00000414552.6:c.1398C>T ENSP00000410732.2:p.Phe466=
ENST00000522990.5:c.*856C>T ENSP00000430732.1:n.*856C>T
ENST00000523372.1:c.1375C>T ENSP00000430124.1:n.1375C>T
NM_000816.3:c.1254C>T NP_000807.2:p.Phe418=
NM_198903.2:c.1398C>T NP_944493.2:p.Phe466=
NM_198904.2:c.1278C>T NP_944494.1:p.Phe426=
NM_001375339.1:c.1269C>T NP_001362268.1:p.Phe423=
NM_001375340.1:c.*112C>T NP_001362269.1:n.*112C>T
NM_001375341.1:c.1275C>T NP_001362270.1:p.Phe425=
NM_001375342.1:c.1251C>T NP_001362271.1:p.Phe417=
NM_001375343.1:c.1374C>T NP_001362272.1:p.Phe458=
NM_001375344.1:c.1317C>T NP_001362273.1:p.Phe439=
NM_001375345.1:c.1188C>T NP_001362274.1:p.Phe396=
NM_001375346.1:c.1212C>T NP_001362275.1:p.Phe404=
NM_001375347.1:c.1191C>T NP_001362276.1:p.Phe397=
NM_001375348.1:c.834C>T NP_001362277.1:p.Phe278=
NM_001375349.1:c.969C>T NP_001362278.1:p.Phe323=
NM_001375350.1:c.858C>T NP_001362279.1:p.Phe286=
NM_198904.3:c.1278C>T NP_944494.1:p.Phe426=
NM_198904.4:c.1278C>T MANE Select NP_944494.1:p.Phe426=