Canonical Allele Identifier: CA117344
Gene: FRZB HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.182838608G>A
GRCh37 chr2:g.183703336G>A
Revel Score:
ENST00000295113 (MANE Select) 0.269
gnomAD v2:
2:183703336 G / A
gnomAD v3:
2:182838608 G / A
gnomAD v4:
chr2-182838608-G-A
Joint Max Group AF 0.11789993 (NFE)
Genomes Max Group AF 0.11607549 (NFE)
Exomes Max Group AF 0.1178958 (NFE)
ClinVar RCV:
RCV000005531
RCV003964795
ClinVar Variation:
5221
dbSNP:
288326
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.182838608G>A , CM000664.2:g.182838608G>A GRCh38
NC_000002.11:g.183703336G>A , CM000664.1:g.183703336G>A GRCh37
NC_000002.10:g.183411581G>A NCBI36
NG_017197.1:g.33163C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295113.5:c.598C>T MANE Select ENSP00000295113.4:p.Arg200Trp
ENST00000295113.4:c.598C>T ENSP00000295113.4:p.Arg200Trp
NM_001463.3:c.598C>T NP_001454.2:p.Arg200Trp
NM_001463.4:c.598C>T MANE Select NP_001454.2:p.Arg200Trp
Search 100 bp 5'
Search 100 bp 3'