Canonical Allele Identifier: CA349750586
Gene: FRZB HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.183703243G>A (hg19) chr2:g.182838515G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.182838515G>A , CM000664.2:g.182838515G>A GRCh38
NC_000002.11:g.183703243G>A , CM000664.1:g.183703243G>A GRCh37
NC_000002.10:g.183411488G>A NCBI36
NG_017197.1:g.33256C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000295113.5:c.691C>T MANE Select ENSP00000295113.4:p.Pro231Ser
ENST00000295113.4:c.691C>T ENSP00000295113.4:p.Pro231Ser
NM_001463.3:c.691C>T NP_001454.2:p.Pro231Ser
NM_001463.4:c.691C>T MANE Select NP_001454.2:p.Pro231Ser
Search 100 bp 5'
Search 100 bp 3'