Canonical Allele Identifier: CA3543327
Gene: GABRB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 386175
dbSNP Id: rs536960677

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.161294237C>T , CM000667.2:g.161294237C>T GRCh38
NC_000005.9:g.160721244C>T , CM000667.1:g.160721244C>T GRCh37
NC_000005.8:g.160653822C>T NCBI36
NG_047050.1:g.258888G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000274547.7:c.1383G>A ENSP00000274547.2:p.Ala461=
ENST00000393959.6:c.1383G>A MANE Select ENSP00000377531.1:p.Ala461=
ENST00000675081.1:c.*728G>A ENSP00000502207.1:n.*728G>A
ENST00000675303.1:c.1269G>A ENSP00000502748.1:p.Ala423=
ENST00000675381.1:c.1017G>A ENSP00000501968.1:p.Ala339=
ENST00000675746.1:c.519G>A ENSP00000502391.1:p.Ala173=
ENST00000675773.1:c.1269G>A ENSP00000502701.1:p.Ala423=
ENST00000274547.6:c.1383G>A ENSP00000274547.2:p.Ala461=
ENST00000353437.10:c.1269G>A ENSP00000274546.6:p.Ala423=
ENST00000393959.5:c.1383G>A ENSP00000377531.1:p.Ala461=
ENST00000517547.5:c.789G>A ENSP00000429750.1:p.Ala263=
ENST00000517901.5:c.1080G>A ENSP00000430532.1:p.Ala360=
ENST00000520240.5:c.1269G>A ENSP00000429320.1:p.Ala423=
NM_000813.2:c.1269G>A NP_000804.1:p.Ala423=
NM_021911.2:c.1383G>A NP_068711.1:p.Ala461=
XM_011534501.1:c.633G>A XP_011532803.1:p.Ala211=
NM_000813.3:c.1269G>A NP_000804.1:p.Ala423=
NM_001371727.1:c.1383G>A MANE Select NP_001358656.1:p.Ala461=
NM_021911.3:c.1383G>A NP_068711.1:p.Ala461=