Canonical Allele Identifier: CA207959
Gene: WDR35 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.19937944C>T
GRCh37 chr2:g.20137705C>T
Revel Score:
ENST00000345530 (MANE Plus Clinical) 0.659
ENST00000281405 (MANE Select) 0.659
ENST00000416055 0.659
ENST00000453014 0.659
gnomAD v2:
2:20137705 C / T
gnomAD v3:
2:19937944 C / T
gnomAD v4:
chr2-19937944-C-T
Joint Max Group AF 0.00493865 (AFR)
Genomes Max Group AF 0.00444934 (AFR)
Exomes Max Group AF 0.00515656 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.19937944C>T , CM000664.2:g.19937944C>T GRCh38
NC_000002.11:g.20137705C>T , CM000664.1:g.20137705C>T GRCh37
NC_000002.10:g.20001186C>T NCBI36
NG_021212.1:g.57180G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000281405.9:c.2066G>A MANE Select ENSP00000281405.5:p.Arg689His
ENST00000345530.8:c.2099G>A MANE Plus Clinical ENSP00000314444.5:p.Arg700His
ENST00000281405.8:c.2066G>A ENSP00000281405.4:p.Arg689His
ENST00000345530.7:c.2099G>A ENSP00000314444.5:p.Arg700His
ENST00000414212.5:c.2099G>A ENSP00000390802.1:p.Arg700His
ENST00000445063.5:c.1542G>A
ENST00000453014.1:c.704G>A ENSP00000404409.1:p.Arg235His
NM_001006657.1:c.2099G>A NP_001006658.1:p.Arg700His
NM_020779.3:c.2066G>A NP_065830.2:p.Arg689His
XM_011533007.1:c.794G>A XP_011531309.1:p.Arg265His
XR_426989.2:n.2099G>A
XM_011533007.2:c.794G>A XP_011531309.1:p.Arg265His
XR_001738862.1:n.2043G>A
XR_426989.3:n.2099G>A
NM_001006657.2:c.2099G>A MANE Plus Clinical NP_001006658.1:p.Arg700His
NM_020779.4:c.2066G>A MANE Select NP_065830.2:p.Arg689His
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