Canonical Allele Identifier: CA209223
Gene: GATAD2B HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 211069
ClinVar RCV Id: RCV000194804
dbSNP Id: rs797045594

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.153816510del , CM000663.2:g.153816510del GRCh38
NC_000001.10:g.153788986del , CM000663.1:g.153788986del GRCh37
NC_000001.9:g.152055610del NCBI36
NG_050988.1:g.111468del

Transcript Alleles

HGVS Amino-acid change
NM_020699.2:c.981del VV NP_065750.1:p.Thr328ArgfsTer2
XM_005245364.3:c.981del XP_005245421.1:p.Thr328ArgfsTer2
XM_006711469.2:c.981del XP_006711532.1:p.Thr328ArgfsTer2
XM_011509808.1:c.981del XP_011508110.1:p.Thr328ArgfsTer2
NM_020699.3:c.981del VV
XM_005245364.4:c.981del
XM_024448621.1:c.981del XP_024304389.1:p.Thr328ArgfsTer2
NM_020699.4:c.981del VV MANE Preferred
ENST00000368655.4:c.981del ENSP00000357644.4:p.Thr328ArgfsTer2
ENST00000634408.1:c.933del ENSP00000489595.1:p.Thr312ArgfsTer2
ENST00000634544.1:c.981del ENSP00000489184.1:p.Thr328ArgfsTer2
ENST00000634564.1:n.235del