Canonical Allele Identifier: CA1120871
Gene: GATAD2B HGNC NCBI

Linked Data

ClinVar Variation Id: 2980811
ClinVar RCV Id: RCV003839969
dbSNP Id: rs368663587

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.153819661C>T , CM000663.2:g.153819661C>T GRCh38
NC_000001.10:g.153792137C>T , CM000663.1:g.153792137C>T GRCh37
NC_000001.9:g.152058761C>T NCBI36
NG_050988.1:g.108315G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703630.1:c.-14G>A ENSP00000515408.1:n.-14G>A
ENST00000368655.5:c.410G>A MANE Select ENSP00000357644.4:p.Arg137His
ENST00000368655.4:c.410G>A ENSP00000357644.4:p.Arg137His
ENST00000634401.1:c.410G>A ENSP00000489313.1:p.Arg137His
ENST00000634408.1:c.410G>A ENSP00000489595.1:p.Arg137His
ENST00000634544.1:c.410G>A ENSP00000489184.1:p.Arg137His
ENST00000634791.1:c.410G>A ENSP00000489566.1:p.Arg137His
NM_020699.2:c.410G>A NP_065750.1:p.Arg137His
XM_005245364.3:c.410G>A XP_005245421.1:p.Arg137His
XM_006711469.2:c.410G>A XP_006711532.1:p.Arg137His
XM_011509808.1:c.410G>A XP_011508110.1:p.Arg137His
NM_020699.3:c.410G>A NP_065750.1:p.Arg137His
XM_005245364.4:c.410G>A XP_005245421.1:p.Arg137His
XM_024448621.1:c.410G>A XP_024304389.1:p.Arg137His
NM_020699.4:c.410G>A MANE Select NP_065750.1:p.Arg137His