Canonical Allele Identifier: CA430432137
Gene: FRZB HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.183703277C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.182838549C>G , CM000664.2:g.182838549C>G GRCh38
NC_000002.11:g.183703277C>G , CM000664.1:g.183703277C>G GRCh37
NC_000002.10:g.183411522C>G NCBI36
NG_017197.1:g.33222G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295113.5:c.657G>C MANE Select ENSP00000295113.4:p.Val219=
ENST00000295113.4:c.657G>C ENSP00000295113.4:p.Val219=
NM_001463.3:c.657G>C NP_001454.2:p.Val219=
NM_001463.4:c.657G>C MANE Select NP_001454.2:p.Val219=