Canonical Allele Identifier: CA3544802
Gene: GABRG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 282556
dbSNP Id: rs773065895

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.162103948G>A , CM000667.2:g.162103948G>A GRCh38
NC_000005.9:g.161530954G>A , CM000667.1:g.161530954G>A GRCh37
NC_000005.8:g.161463532G>A NCBI36
NG_009290.1:g.41307G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000356592.8:n.653G>A
ENST00000361925.9:c.811G>A ENSP00000354651.5:p.Asp271Asn
ENST00000522053.2:n.582G>A
ENST00000523372.2:n.774G>A
ENST00000638552.1:c.406G>A ENSP00000491763.1:p.Asp136Asn
ENST00000638660.1:c.406G>A ENSP00000492869.1:p.Asp136Asn
ENST00000638772.1:c.691G>A ENSP00000491557.1:p.Asp231Asn
ENST00000638782.1:n.753G>A
ENST00000638877.1:n.568G>A
ENST00000639046.1:c.82G>A ENSP00000492659.1:p.Asp28Asn
ENST00000639111.2:c.691G>A ENSP00000492125.2:p.Asp231Asn
ENST00000639213.2:c.691G>A MANE Select ENSP00000491909.2:p.Asp231Asn
ENST00000639278.1:n.619G>A ENSP00000491958.1:p.Asp207Asn
ENST00000639384.1:c.691G>A ENSP00000491240.1:p.Asp231Asn
ENST00000639424.1:c.107+35842G>A ENSP00000491245.1:p.=
ENST00000639683.1:c.625G>A ENSP00000492581.1:p.Asp209Asn
ENST00000639975.1:c.625G>A ENSP00000492096.1:p.Asp209Asn
ENST00000640574.1:c.406G>A ENSP00000491582.1:p.Asp136Asn
ENST00000640739.1:n.3222G>A
ENST00000640910.1:n.129G>A
ENST00000640985.1:c.604G>A ENSP00000492293.1:p.Asp202Asn
ENST00000641017.1:n.691G>A ENSP00000493461.1:p.Asp231Asn
ENST00000356592.7:c.691G>A ENSP00000349000.3:p.Asp231Asn
ENST00000361925.8:c.691G>A ENSP00000354651.4:p.Asp231Asn
ENST00000414552.6:c.811G>A ENSP00000410732.2:p.Asp271Asn
ENST00000522053.1:c.406G>A ENSP00000430182.1:p.Asp136Asn
ENST00000522990.5:c.*293G>A ENSP00000430732.1:p.=
ENST00000523372.1:n.812G>A ENSP00000430124.1:p.=
NM_000816.3:c.691G>A NP_000807.2:p.Asp231Asn
NM_198903.2:c.811G>A NP_944493.2:p.Asp271Asn
NM_198904.2:c.691G>A NP_944494.1:p.Asp231Asn
NM_001375339.1:c.682G>A NP_001362268.1:p.Asp228Asn
NM_001375340.1:c.691G>A NP_001362269.1:p.Asp231Asn
NM_001375341.1:c.691G>A NP_001362270.1:p.Asp231Asn
NM_001375342.1:c.691G>A NP_001362271.1:p.Asp231Asn
NM_001375343.1:c.811G>A NP_001362272.1:p.Asp271Asn
NM_001375344.1:c.691G>A NP_001362273.1:p.Asp231Asn
NM_001375345.1:c.625G>A NP_001362274.1:p.Asp209Asn
NM_001375346.1:c.625G>A NP_001362275.1:p.Asp209Asn
NM_001375347.1:c.604G>A NP_001362276.1:p.Asp202Asn
NM_001375348.1:c.271G>A NP_001362277.1:p.Asp91Asn
NM_001375349.1:c.406G>A NP_001362278.1:p.Asp136Asn
NM_001375350.1:c.271G>A NP_001362279.1:p.Asp91Asn
NM_198904.3:c.691G>A NP_944494.1:p.Asp231Asn
NM_198904.4:c.691G>A MANE Select NP_944494.1:p.Asp231Asn