Canonical Allele Identifier: CA339782
Gene: WDR35 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.19933469C>T
GRCh37 chr2:g.20133230C>T
Revel Score:
ENST00000345530 (MANE Plus Clinical) 0.601
ENST00000281405 (MANE Select) 0.601
gnomAD v2:
2:20133230 C / T
gnomAD v3:
2:19933469 C / T
gnomAD v4:
chr2-19933469-C-T
Joint Max Group AF 0.00000878 (NFE)
Exomes Max Group AF 0.00000852 (NFE)
ClinVar RCV:
RCV000000040
RCV000508347
ClinVar Variation:
23
dbSNP:
267607175
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.19933469C>T , CM000664.2:g.19933469C>T GRCh38
NC_000002.11:g.20133230C>T , CM000664.1:g.20133230C>T GRCh37
NC_000002.10:g.19996711C>T NCBI36
NG_021212.1:g.61655G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000281405.9:c.2590G>A MANE Select ENSP00000281405.5:p.Ala864Thr
ENST00000345530.8:c.2623G>A MANE Plus Clinical ENSP00000314444.5:p.Ala875Thr
ENST00000281405.8:c.2590G>A ENSP00000281405.4:p.Ala864Thr
ENST00000345530.7:c.2623G>A ENSP00000314444.5:p.Ala875Thr
ENST00000414212.5:c.*5G>A ENSP00000390802.1:n.*5G>A
ENST00000445063.5:c.2023+2002G>A
NM_001006657.1:c.2623G>A NP_001006658.1:p.Ala875Thr
NM_020779.3:c.2590G>A NP_065830.2:p.Ala864Thr
XM_011533007.1:c.1318G>A XP_011531309.1:p.Ala440Thr
XR_426989.2:n.2623G>A
XM_011533007.2:c.1318G>A XP_011531309.1:p.Ala440Thr
XR_001738862.1:n.2567G>A
XR_426989.3:n.2623G>A
NM_001006657.2:c.2623G>A MANE Plus Clinical NP_001006658.1:p.Ala875Thr
NM_020779.4:c.2590G>A MANE Select NP_065830.2:p.Ala864Thr
Search 100 bp 5'
Search 100 bp 3'