Canonical Allele Identifier: CA2013950
Gene: FRZB HGNC NCBI

Linked Data

dbSNP Id: rs112797950
ExAC: 2:183703239 C / T
gnomAD v2: 2-183703239-C-T
gnomAD v3: 2-182838511-C-T
gnomAD v4: 2-182838511-C-T
MyVariant Identifiers: chr2:g.183703239C>T (hg19) chr2:g.182838511C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.182838511C>T , CM000664.2:g.182838511C>T GRCh38
NC_000002.11:g.183703239C>T , CM000664.1:g.183703239C>T GRCh37
NC_000002.10:g.183411484C>T NCBI36
NG_017197.1:g.33260G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000295113.5:c.695G>A MANE Select ENSP00000295113.4:p.Arg232Gln
ENST00000295113.4:c.695G>A ENSP00000295113.4:p.Arg232Gln
NM_001463.3:c.695G>A NP_001454.2:p.Arg232Gln
NM_001463.4:c.695G>A MANE Select NP_001454.2:p.Arg232Gln
Search 100 bp 5'
Search 100 bp 3'