Canonical Allele Identifier: CA43388469
Gene: WDR35 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.19982471C>T
GRCh37 chr2:g.20182232C>T
Revel Score:
ENST00000345530 (MANE Plus Clinical) 0.591
ENST00000281405 (MANE Select) 0.591
gnomAD v4:
chr2-19982471-C-T
Joint Max Group AF 0.00000359 (NFE)
Exomes Max Group AF 0.00000381 (NFE)
ClinVar Allele:
425298
ClinVar RCV:
RCV000515824
RCV000591001
RCV003326443
ClinVar Variation:
431796
dbSNP:
765513105
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.19982471C>T , CM000664.2:g.19982471C>T GRCh38
NC_000002.11:g.20182232C>T , CM000664.1:g.20182232C>T GRCh37
NC_000002.10:g.20045713C>T NCBI36
NG_021212.1:g.12653G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000281405.9:c.206G>A MANE Select ENSP00000281405.5:p.Gly69Asp
ENST00000345530.8:c.206G>A MANE Plus Clinical ENSP00000314444.5:p.Gly69Asp
ENST00000281405.8:c.206G>A ENSP00000281405.4:p.Gly69Asp
ENST00000345530.7:c.206G>A ENSP00000314444.5:p.Gly69Asp
ENST00000414212.5:c.206G>A ENSP00000390802.1:p.Gly69Asp
NM_001006657.1:c.206G>A NP_001006658.1:p.Gly69Asp
NM_020779.3:c.206G>A NP_065830.2:p.Gly69Asp
XR_426989.2:n.239G>A
XR_939699.1:n.239G>A
XR_001738862.1:n.239G>A
XR_426989.3:n.239G>A
XR_939699.3:n.239G>A
NM_001006657.2:c.206G>A MANE Plus Clinical NP_001006658.1:p.Gly69Asp
NM_020779.4:c.206G>A MANE Select NP_065830.2:p.Gly69Asp
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