Canonical Allele Identifier: CA430432118
Gene: FRZB HGNC NCBI

Linked Data

dbSNP Id: rs1559046320
gnomAD v2: 2-183703253-C-A
gnomAD v4: 2-182838525-C-A
MyVariant Identifiers: chr2:g.183703253C>A (hg19) chr2:g.182838525C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.182838525C>A , CM000664.2:g.182838525C>A GRCh38
NC_000002.11:g.183703253C>A , CM000664.1:g.183703253C>A GRCh37
NC_000002.10:g.183411498C>A NCBI36
NG_017197.1:g.33246G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295113.5:c.681G>T MANE Select ENSP00000295113.4:p.Leu227=
ENST00000295113.4:c.681G>T ENSP00000295113.4:p.Leu227=
NM_001463.3:c.681G>T NP_001454.2:p.Leu227=
NM_001463.4:c.681G>T MANE Select NP_001454.2:p.Leu227=
Search 100 bp 5'
Search 100 bp 3'