Canonical Allele Identifier: CA16604909
Gene: GABRG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 379047
ClinVar RCV Id: RCV000418335
dbSNP Id: rs1057520476

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.162097850C>A , CM000667.2:g.162097850C>A GRCh38
NC_000005.9:g.161524856C>A , CM000667.1:g.161524856C>A GRCh37
NC_000005.8:g.161457434C>A NCBI36
NG_009290.1:g.35209C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000356592.8:c.502C>A
ENST00000361925.9:c.540C>A ENSP00000354651.5:p.Tyr180Ter
ENST00000522053.2:n.431C>A
ENST00000523372.2:c.623C>A
ENST00000638552.1:c.255C>A ENSP00000491763.1:p.Tyr85Ter
ENST00000638660.1:c.255C>A ENSP00000492869.1:p.Tyr85Ter
ENST00000638772.1:c.540C>A ENSP00000491557.1:p.Tyr180Ter
ENST00000638782.1:n.602C>A
ENST00000638877.1:c.417C>A
ENST00000639046.1:c.23-6039C>A ENSP00000492659.1:n.23-6039C>A
ENST00000639111.2:c.540C>A ENSP00000492125.2:p.Tyr180Ter
ENST00000639213.2:c.540C>A MANE Select ENSP00000491909.2:p.Tyr180Ter
ENST00000639278.1:c.468C>A ENSP00000491958.1:p.Tyr156Ter
ENST00000639384.1:c.540C>A ENSP00000491240.1:p.Tyr180Ter
ENST00000639424.1:c.107+29744C>A ENSP00000491245.1:n.107+29744C>A
ENST00000639554.1:n.500C>A
ENST00000639683.1:c.474C>A ENSP00000492581.1:p.Tyr158Ter
ENST00000639975.1:c.474C>A ENSP00000492096.1:p.Tyr158Ter
ENST00000640574.1:c.255C>A ENSP00000491582.1:p.Tyr85Ter
ENST00000640739.1:n.500C>A
ENST00000640910.1:c.70-6039C>A
ENST00000640985.1:c.453C>A ENSP00000492293.1:p.Tyr151Ter
ENST00000641017.1:c.540C>A ENSP00000493461.1:p.Tyr180Ter
ENST00000356592.7:c.540C>A ENSP00000349000.3:p.Tyr180Ter
ENST00000361925.8:c.540C>A ENSP00000354651.4:p.Tyr180Ter
ENST00000414552.6:c.540C>A ENSP00000410732.2:p.Tyr180Ter
ENST00000522053.1:c.255C>A ENSP00000430182.1:p.Tyr85Ter
ENST00000522990.5:c.*142C>A ENSP00000430732.1:n.*142C>A
ENST00000523372.1:c.661C>A ENSP00000430124.1:n.661C>A
NM_000816.3:c.540C>A NP_000807.2:p.Tyr180Ter
NM_198903.2:c.540C>A NP_944493.2:p.Tyr180Ter
NM_198904.2:c.540C>A NP_944494.1:p.Tyr180Ter
NM_001375339.1:c.531C>A NP_001362268.1:p.Tyr177Ter
NM_001375340.1:c.540C>A NP_001362269.1:p.Tyr180Ter
NM_001375341.1:c.540C>A NP_001362270.1:p.Tyr180Ter
NM_001375342.1:c.540C>A NP_001362271.1:p.Tyr180Ter
NM_001375343.1:c.540C>A NP_001362272.1:p.Tyr180Ter
NM_001375344.1:c.540C>A NP_001362273.1:p.Tyr180Ter
NM_001375345.1:c.474C>A NP_001362274.1:p.Tyr158Ter
NM_001375346.1:c.474C>A NP_001362275.1:p.Tyr158Ter
NM_001375347.1:c.453C>A NP_001362276.1:p.Tyr151Ter
NM_001375348.1:c.120C>A NP_001362277.1:p.Tyr40Ter
NM_001375349.1:c.255C>A NP_001362278.1:p.Tyr85Ter
NM_001375350.1:c.120C>A NP_001362279.1:p.Tyr40Ter
NM_198904.3:c.540C>A NP_944494.1:p.Tyr180Ter
NM_198904.4:c.540C>A MANE Select NP_944494.1:p.Tyr180Ter