Canonical Allele Identifier: CA430432042
Gene: FRZB HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.183703166G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.182838438G>T , CM000664.2:g.182838438G>T GRCh38
NC_000002.11:g.183703166G>T , CM000664.1:g.183703166G>T GRCh37
NC_000002.10:g.183411411G>T NCBI36
NG_017197.1:g.33333C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295113.5:c.768C>A MANE Select ENSP00000295113.4:p.Ile256=
ENST00000295113.4:c.768C>A ENSP00000295113.4:p.Ile256=
NM_001463.3:c.768C>A NP_001454.2:p.Ile256=
NM_001463.4:c.768C>A MANE Select NP_001454.2:p.Ile256=