Canonical Allele Identifier: CA538439244
Gene: FRZB HGNC NCBI

Linked Data

dbSNP Id: rs1282026927
gnomAD v2: 2-183703347-A-T
gnomAD v3: 2-182838619-A-T
gnomAD v4: 2-182838619-A-T
MyVariant Identifiers: chr2:g.183703347A>T (hg19) chr2:g.182838619A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.182838619A>T , CM000664.2:g.182838619A>T GRCh38
NC_000002.11:g.183703347A>T , CM000664.1:g.183703347A>T GRCh37
NC_000002.10:g.183411592A>T NCBI36
NG_017197.1:g.33152T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295113.5:c.593-6T>A MANE Select ENSP00000295113.4:n.593-6T>A
ENST00000295113.4:c.593-6T>A ENSP00000295113.4:n.593-6T>A
NM_001463.3:c.593-6T>A NP_001454.2:n.593-6T>A
NM_001463.4:c.593-6T>A MANE Select NP_001454.2:n.593-6T>A
Search 100 bp 5'
Search 100 bp 3'