Canonical Allele Identifier: CA430432117
Gene: FRZB HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.183703250T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.182838522T>G , CM000664.2:g.182838522T>G GRCh38
NC_000002.11:g.183703250T>G , CM000664.1:g.183703250T>G GRCh37
NC_000002.10:g.183411495T>G NCBI36
NG_017197.1:g.33249A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295113.5:c.684A>C MANE Select ENSP00000295113.4:p.Val228=
ENST00000295113.4:c.684A>C ENSP00000295113.4:p.Val228=
NM_001463.3:c.684A>C NP_001454.2:p.Val228=
NM_001463.4:c.684A>C MANE Select NP_001454.2:p.Val228=
Search 100 bp 5'
Search 100 bp 3'