Canonical Allele Identifier: CA242420
Gene: WDR35 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.19932329T>C
GRCh37 chr2:g.20132090T>C
Revel Score:
ENST00000345530 (MANE Plus Clinical) 0.759
ENST00000281405 (MANE Select) 0.759
gnomAD v2:
2:20132090 T / C
gnomAD v3:
2:19932329 T / C
gnomAD v4:
chr2-19932329-T-C
Joint Max Group AF 0.003755 (EAS)
Genomes Max Group AF 0.00366857 (EAS)
Exomes Max Group AF 0.00360742 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.19932329T>C , CM000664.2:g.19932329T>C GRCh38
NC_000002.11:g.20132090T>C , CM000664.1:g.20132090T>C GRCh37
NC_000002.10:g.19995571T>C NCBI36
NG_021212.1:g.62795A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000281405.9:c.2777A>G MANE Select ENSP00000281405.5:p.Tyr926Cys
ENST00000345530.8:c.2810A>G MANE Plus Clinical ENSP00000314444.5:p.Tyr937Cys
ENST00000281405.8:c.2777A>G ENSP00000281405.4:p.Tyr926Cys
ENST00000345530.7:c.2810A>G ENSP00000314444.5:p.Tyr937Cys
ENST00000414212.5:c.*138+54A>G ENSP00000390802.1:n.*138+54A>G
ENST00000445063.5:c.2024-920A>G
NM_001006657.1:c.2810A>G NP_001006658.1:p.Tyr937Cys
NM_020779.3:c.2777A>G NP_065830.2:p.Tyr926Cys
XM_011533007.1:c.1505A>G XP_011531309.1:p.Tyr502Cys
XR_426989.2:n.2756+54A>G
XM_011533007.2:c.1505A>G XP_011531309.1:p.Tyr502Cys
XR_426989.3:n.2756+54A>G
NM_001006657.2:c.2810A>G MANE Plus Clinical NP_001006658.1:p.Tyr937Cys
NM_020779.4:c.2777A>G MANE Select NP_065830.2:p.Tyr926Cys
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