Canonical Allele Identifier: CA1542772
Gene: WDR35 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.19930556C>A
GRCh37 chr2:g.20130317C>A
gnomAD v2:
2:20130317 C / A
gnomAD v3:
2:19930556 C / A
gnomAD v4:
chr2-19930556-C-A
Joint Max Group AF 0.00003584 (NFE)
Genomes Max Group AF 0.00001972 (NFE)
Exomes Max Group AF 0.00003459 (NFE)
ClinVar Allele:
286474
ClinVar RCV:
RCV000282531
RCV000334458
RCV002057631
ClinVar Variation:
333374
dbSNP:
199696980
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.19930556C>A , CM000664.2:g.19930556C>A GRCh38
NC_000002.11:g.20130317C>A , CM000664.1:g.20130317C>A GRCh37
NC_000002.10:g.19993798C>A NCBI36
NG_021212.1:g.64568G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000281405.9:c.2965-4G>T MANE Select ENSP00000281405.5:n.2965-4G>T
ENST00000345530.8:c.2998-4G>T MANE Plus Clinical ENSP00000314444.5:n.2998-4G>T
ENST00000281405.8:c.2965-4G>T ENSP00000281405.4:n.2965-4G>T
ENST00000345530.7:c.2998-4G>T ENSP00000314444.5:n.2998-4G>T
ENST00000414212.5:c.*280-4G>T ENSP00000390802.1:n.*280-4G>T
ENST00000445063.5:c.2165-4G>T
NM_001006657.1:c.2998-4G>T NP_001006658.1:n.2998-4G>T
NM_020779.3:c.2965-4G>T NP_065830.2:n.2965-4G>T
XM_011533007.1:c.1693-4G>T XP_011531309.1:n.1693-4G>T
XR_426989.2:n.2898-4G>T
XM_011533007.2:c.1693-4G>T XP_011531309.1:n.1693-4G>T
XR_426989.3:n.2898-4G>T
NM_001006657.2:c.2998-4G>T MANE Plus Clinical NP_001006658.1:n.2998-4G>T
NM_020779.4:c.2965-4G>T MANE Select NP_065830.2:n.2965-4G>T
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