Canonical Allele Identifier: CA1542728
Gene: WDR35 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.19914229T>C
GRCh37 chr2:g.20113990T>C
Revel Score:
ENST00000345530 (MANE Plus Clinical) 0.854
ENST00000281405 (MANE Select) 0.854
gnomAD v2:
2:20113990 T / C
gnomAD v3:
2:19914229 T / C
gnomAD v4:
chr2-19914229-T-C
Joint Max Group AF 0.00000542 (NFE)
Genomes Max Group AF 0.00000801 (AFR)
Exomes Max Group AF 0.00000455 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.19914229T>C , CM000664.2:g.19914229T>C GRCh38
NC_000002.11:g.20113990T>C , CM000664.1:g.20113990T>C GRCh37
NC_000002.10:g.19977471T>C NCBI36
NG_021212.1:g.80895A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000281405.9:c.3170A>G MANE Select ENSP00000281405.5:p.Tyr1057Cys
ENST00000345530.8:c.3203A>G MANE Plus Clinical ENSP00000314444.5:p.Tyr1068Cys
ENST00000281405.8:c.3170A>G ENSP00000281405.4:p.Tyr1057Cys
ENST00000345530.7:c.3203A>G ENSP00000314444.5:p.Tyr1068Cys
ENST00000414212.5:c.*485A>G ENSP00000390802.1:n.*485A>G
ENST00000445063.5:c.2322-521A>G
NM_001006657.1:c.3203A>G NP_001006658.1:p.Tyr1068Cys
NM_020779.3:c.3170A>G NP_065830.2:p.Tyr1057Cys
XM_011533007.1:c.1898A>G XP_011531309.1:p.Tyr633Cys
XM_011533007.2:c.1898A>G XP_011531309.1:p.Tyr633Cys
XR_426989.3:n.3103A>G
NM_001006657.2:c.3203A>G MANE Plus Clinical NP_001006658.1:p.Tyr1068Cys
NM_020779.4:c.3170A>G MANE Select NP_065830.2:p.Tyr1057Cys
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