Canonical Allele Identifier: CA447691520
Gene: GABRG2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.161580113T>C (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000356592.8:c.1168T>C
ENST00000361925.9:c.1263T>C ENSP00000354651.5:p.Asp421=
ENST00000523372.2:c.1226T>C
ENST00000638253.1:n.421T>C
ENST00000638552.1:c.858T>C ENSP00000491763.1:p.Asp286=
ENST00000638660.1:c.882T>C ENSP00000492869.1:p.Asp294=
ENST00000638772.1:c.*3764T>C ENSP00000491557.1:n.*3764T>C
ENST00000638877.1:c.1044T>C
ENST00000639046.1:c.534T>C ENSP00000492659.1:p.Asp178=
ENST00000639111.2:c.1143T>C ENSP00000492125.2:p.Asp381=
ENST00000639213.2:c.1167T>C MANE Select ENSP00000491909.2:p.Asp389=
ENST00000639278.1:c.1830T>C ENSP00000491958.1:n.1830T>C
ENST00000639384.1:c.*1348T>C ENSP00000491240.1:n.*1348T>C
ENST00000639424.1:c.*367T>C ENSP00000491245.1:n.*367T>C
ENST00000639683.1:c.1101T>C ENSP00000492581.1:p.Asp367=
ENST00000639975.1:c.1077T>C ENSP00000492096.1:p.Asp359=
ENST00000640500.1:n.441T>C
ENST00000640739.1:n.6114T>C
ENST00000640910.1:c.605T>C
ENST00000640985.1:c.1080T>C ENSP00000492293.1:p.Asp360=
ENST00000641017.1:c.1236T>C ENSP00000493461.1:p.Asp412=
ENST00000356592.7:c.1167T>C ENSP00000349000.3:p.Asp389=
ENST00000361925.8:c.1143T>C ENSP00000354651.4:p.Asp381=
ENST00000414552.6:c.1287T>C ENSP00000410732.2:p.Asp429=
ENST00000522990.5:c.*745T>C ENSP00000430732.1:n.*745T>C
ENST00000523372.1:c.1264T>C ENSP00000430124.1:n.1264T>C
NM_000816.3:c.1143T>C NP_000807.2:p.Asp381=
NM_198903.2:c.1287T>C NP_944493.2:p.Asp429=
NM_198904.2:c.1167T>C NP_944494.1:p.Asp389=
NM_001375339.1:c.1158T>C NP_001362268.1:p.Asp386=
NM_001375340.1:c.*1T>C NP_001362269.1:n.*1T>C
NM_001375341.1:c.1164T>C NP_001362270.1:p.Asp388=
NM_001375342.1:c.1140T>C NP_001362271.1:p.Asp380=
NM_001375343.1:c.1263T>C NP_001362272.1:p.Asp421=
NM_001375344.1:c.1206T>C NP_001362273.1:p.Asp402=
NM_001375345.1:c.1077T>C NP_001362274.1:p.Asp359=
NM_001375346.1:c.1101T>C NP_001362275.1:p.Asp367=
NM_001375347.1:c.1080T>C NP_001362276.1:p.Asp360=
NM_001375348.1:c.723T>C NP_001362277.1:p.Asp241=
NM_001375349.1:c.858T>C NP_001362278.1:p.Asp286=
NM_001375350.1:c.747T>C NP_001362279.1:p.Asp249=
NM_198904.3:c.1167T>C NP_944494.1:p.Asp389=
NM_198904.4:c.1167T>C MANE Select NP_944494.1:p.Asp389=