Canonical Allele Identifier: CA1543330
Gene: WDR35 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.19966735T>A
GRCh37 chr2:g.20166496T>A
Revel Score:
ENST00000345530 (MANE Plus Clinical) 0.260
ENST00000281405 (MANE Select) 0.260
gnomAD v2:
2:20166496 T / A
gnomAD v3:
2:19966735 T / A
gnomAD v4:
chr2-19966735-T-A
Joint Max Group AF 0.00274775 (NFE)
Genomes Max Group AF 0.00209544 (NFE)
Exomes Max Group AF 0.00277107 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.19966735T>A , CM000664.2:g.19966735T>A GRCh38
NC_000002.11:g.20166496T>A , CM000664.1:g.20166496T>A GRCh37
NC_000002.10:g.20029977T>A NCBI36
NG_021212.1:g.28389A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000281405.9:c.1183A>T MANE Select ENSP00000281405.5:p.Asn395Tyr
ENST00000345530.8:c.1183A>T MANE Plus Clinical ENSP00000314444.5:p.Asn395Tyr
ENST00000281405.8:c.1183A>T ENSP00000281405.4:p.Asn395Tyr
ENST00000345530.7:c.1183A>T ENSP00000314444.5:p.Asn395Tyr
ENST00000414212.5:c.1183A>T ENSP00000390802.1:p.Asn395Tyr
ENST00000445063.5:c.720A>T
NM_001006657.1:c.1183A>T NP_001006658.1:p.Asn395Tyr
NM_020779.3:c.1183A>T NP_065830.2:p.Asn395Tyr
XM_011533007.1:c.-29A>T XP_011531309.1:n.-29A>T
XR_426989.2:n.1216A>T
XR_939699.1:n.1216A>T
XM_011533007.2:c.-29A>T XP_011531309.1:n.-29A>T
XR_001738862.1:n.1216A>T
XR_426989.3:n.1216A>T
XR_939699.3:n.1216A>T
NM_001006657.2:c.1183A>T MANE Plus Clinical NP_001006658.1:p.Asn395Tyr
NM_020779.4:c.1183A>T MANE Select NP_065830.2:p.Asn395Tyr
Search 100 bp 5'
Search 100 bp 3'