Canonical Allele Identifier: CA399792105
Gene: FZD2 HGNC NCBI
ClinVar RCV:
RCV001420595
ClinVar Variation:
1098642
dbSNP:
1248571035
gnomAD v4:
chr17-44558088-G-C
MyVariant.info:
GRCh38 chr17:g.44558088G>C
GRCh37 chr17:g.42635456G>C
Revel Score:
ENST00000541149 0.663
ENST00000315323 (MANE Select) 0.663
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44558088G>C , CM000679.2:g.44558088G>C GRCh38
NC_000017.10:g.42635456G>C , CM000679.1:g.42635456G>C GRCh37
NC_000017.9:g.39990982G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000315323.5:c.400G>C MANE Select ENSP00000323901.3:p.Glu134Gln
ENST00000315323.4:c.400G>C ENSP00000323901.3:p.Glu134Gln
NM_001466.3:c.400G>C NP_001457.1:p.Glu134Gln
NM_001466.4:c.400G>C MANE Select NP_001457.1:p.Glu134Gln
Search 100 bp 5'
Search 100 bp 3'