Canonical Allele Identifier: CA2013952
Gene: FRZB HGNC NCBI

Linked Data

ClinVar Variation Id: 2522815
ClinVar RCV Id: RCV004299917
dbSNP Id: rs758867782
ExAC: 2:183703247 G / T
gnomAD v2: 2-183703247-G-T
gnomAD v3: 2-182838519-G-T
gnomAD v4: 2-182838519-G-T
MyVariant Identifiers: chr2:g.183703247G>T (hg19) chr2:g.182838519G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.182838519G>T , CM000664.2:g.182838519G>T GRCh38
NC_000002.11:g.183703247G>T , CM000664.1:g.183703247G>T GRCh37
NC_000002.10:g.183411492G>T NCBI36
NG_017197.1:g.33252C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295113.5:c.687C>A MANE Select ENSP00000295113.4:p.Asn229Lys
ENST00000295113.4:c.687C>A ENSP00000295113.4:p.Asn229Lys
NM_001463.3:c.687C>A NP_001454.2:p.Asn229Lys
NM_001463.4:c.687C>A MANE Select NP_001454.2:p.Asn229Lys
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