Canonical Allele Identifier: CA349750794

Gene: FRZB

Linked Data

• dbSNP Id: rs773163819
• gnomAD v2: 2-183703291-C-T
• gnomAD v4: 2-182838563-C-T
• MyVariant Identifiers: chr2:g.183703291C>T (hg19) ; chr2:g.182838563C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.182838563C>T , CM000664.2:g.182838563C>T	GRCh38
NC_000002.11:g.183703291C>T , CM000664.1:g.183703291C>T	GRCh37
NC_000002.10:g.183411536C>T	NCBI36
NG_017197.1:g.33208G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295113.5:c.643G>A MANE Select	ENSP00000295113.4:p.Ala215Thr
ENST00000295113.4:c.643G>A	ENSP00000295113.4:p.Ala215Thr
NM_001463.3:c.643G>A	NP_001454.2:p.Ala215Thr
NM_001463.4:c.643G>A MANE Select	NP_001454.2:p.Ala215Thr