Canonical Allele Identifier: CA430432135
Gene: FRZB HGNC NCBI

Linked Data

gnomAD v4: 2-182838543-C-T
MyVariant Identifiers: chr2:g.183703271C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.182838543C>T , CM000664.2:g.182838543C>T GRCh38
NC_000002.11:g.183703271C>T , CM000664.1:g.183703271C>T GRCh37
NC_000002.10:g.183411516C>T NCBI36
NG_017197.1:g.33228G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295113.5:c.663G>A MANE Select ENSP00000295113.4:p.Glu221=
ENST00000295113.4:c.663G>A ENSP00000295113.4:p.Glu221=
NM_001463.3:c.663G>A NP_001454.2:p.Glu221=
NM_001463.4:c.663G>A MANE Select NP_001454.2:p.Glu221=
Search 100 bp 5'
Search 100 bp 3'