Canonical Allele Identifier: CA349750340
Gene: FRZB HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.183703186C>A (hg19) chr2:g.182838458C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.182838458C>A , CM000664.2:g.182838458C>A GRCh38
NC_000002.11:g.183703186C>A , CM000664.1:g.183703186C>A GRCh37
NC_000002.10:g.183411431C>A NCBI36
NG_017197.1:g.33313G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295113.5:c.748G>T MANE Select ENSP00000295113.4:p.Val250Phe
ENST00000295113.4:c.748G>T ENSP00000295113.4:p.Val250Phe
NM_001463.3:c.748G>T NP_001454.2:p.Val250Phe
NM_001463.4:c.748G>T MANE Select NP_001454.2:p.Val250Phe
Search 100 bp 5'
Search 100 bp 3'