Canonical Allele Identifier: CA399797946
Gene: FZD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 488051
ClinVar RCV Id: RCV000577910 RCV002529036
dbSNP Id: rs1555657045
gnomAD v4: 17-44558818-G-A
MyVariant Identifiers: chr17:g.42636186G>A (hg19) chr17:g.44558818G>A (hg38)
PubMed: PMID:29276006
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44558818G>A , CM000679.2:g.44558818G>A GRCh38
NC_000017.10:g.42636186G>A , CM000679.1:g.42636186G>A GRCh37
NC_000017.9:g.39991712G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000315323.5:c.1130G>A MANE Select ENSP00000323901.3:p.Trp377Ter
ENST00000315323.4:c.1130G>A ENSP00000323901.3:p.Trp377Ter
NM_001466.3:c.1130G>A NP_001457.1:p.Trp377Ter
NM_001466.4:c.1130G>A MANE Select NP_001457.1:p.Trp377Ter
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