Canonical Allele Identifier: CA2013978

Gene: FRZB

Linked Data

• dbSNP Id: rs779676780
• ExAC: 2:183703380 ACATAATAGCTACCC / A
• gnomAD v2: 2-183703380-ACATAATAGCTACCC-A
• gnomAD v3: 2-182838652-ACATAATAGCTACCC-A
• gnomAD v4: 2-182838652-ACATAATAGCTACCC-A
• MyVariant Identifiers: chr2:g.183703381_183703394del (hg19) ; chr2:g.182838654_182838667del (hg38) ; chr2:g.182838653_182838666del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.182838656_182838669del , CM000664.2:g.182838656_182838669del	GRCh38
NC_000002.11:g.183703384_183703397del , CM000664.1:g.183703384_183703397del	GRCh37
NC_000002.10:g.183411629_183411642del	NCBI36
NG_017197.1:g.33105_33118del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295113.5:c.593-53_593-40del MANE Select	ENSP00000295113.4:n.593-53_593-40del
ENST00000295113.4:c.593-53_593-40del	ENSP00000295113.4:n.593-53_593-40del
NM_001463.3:c.593-53_593-40del	NP_001454.2:n.593-53_593-40del
NM_001463.4:c.593-53_593-40del MANE Select	NP_001454.2:n.593-53_593-40del