Canonical Allele Identifier: CA1543360
Gene: WDR35 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.19966889A>G
GRCh37 chr2:g.20166650A>G
gnomAD v2:
2:20166650 A / G
gnomAD v3:
2:19966889 A / G
gnomAD v4:
chr2-19966889-A-G
Joint Max Group AF 0.00014502 (SAS)
Genomes Max Group AF 0.00016885 (SAS)
Exomes Max Group AF 0.00012473 (SAS)
ClinVar Allele:
283810
ClinVar RCV:
RCV000292694
RCV000407907
RCV002057634
ClinVar Variation:
333399
dbSNP:
536150588
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.19966889A>G , CM000664.2:g.19966889A>G GRCh38
NC_000002.11:g.20166650A>G , CM000664.1:g.20166650A>G GRCh37
NC_000002.10:g.20030131A>G NCBI36
NG_021212.1:g.28235T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000281405.9:c.1029T>C MANE Select ENSP00000281405.5:p.Thr343=
ENST00000345530.8:c.1029T>C MANE Plus Clinical ENSP00000314444.5:p.Thr343=
ENST00000281405.8:c.1029T>C ENSP00000281405.4:p.Thr343=
ENST00000345530.7:c.1029T>C ENSP00000314444.5:p.Thr343=
ENST00000414212.5:c.1029T>C ENSP00000390802.1:p.Thr343=
ENST00000445063.5:c.566T>C
NM_001006657.1:c.1029T>C NP_001006658.1:p.Thr343=
NM_020779.3:c.1029T>C NP_065830.2:p.Thr343=
XR_426989.2:n.1062T>C
XR_939699.1:n.1062T>C
XR_001738862.1:n.1062T>C
XR_426989.3:n.1062T>C
XR_939699.3:n.1062T>C
NM_001006657.2:c.1029T>C MANE Plus Clinical NP_001006658.1:p.Thr343=
NM_020779.4:c.1029T>C MANE Select NP_065830.2:p.Thr343=
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