Canonical Allele Identifier: CA349750899

Gene: FRZB

Linked Data

• MyVariant Identifiers: chr2:g.183703333C>G (hg19) ; chr2:g.182838605C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.182838605C>G , CM000664.2:g.182838605C>G	GRCh38
NC_000002.11:g.183703333C>G , CM000664.1:g.183703333C>G	GRCh37
NC_000002.10:g.183411578C>G	NCBI36
NG_017197.1:g.33166G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295113.5:c.601G>C MANE Select	ENSP00000295113.4:p.Ala201Pro
ENST00000295113.4:c.601G>C	ENSP00000295113.4:p.Ala201Pro
NM_001463.3:c.601G>C	NP_001454.2:p.Ala201Pro
NM_001463.4:c.601G>C MANE Select	NP_001454.2:p.Ala201Pro