Canonical Allele Identifier: CA2013972

Gene: FRZB

Linked Data

• dbSNP Id: rs755285758
• ExAC: 2:183703344 G / A
• gnomAD v2: 2-183703344-G-A
• gnomAD v3: 2-182838616-G-A
• gnomAD v4: 2-182838616-G-A
• MyVariant Identifiers: chr2:g.183703344G>A (hg19) ; chr2:g.182838616G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.182838616G>A , CM000664.2:g.182838616G>A	GRCh38
NC_000002.11:g.183703344G>A , CM000664.1:g.183703344G>A	GRCh37
NC_000002.10:g.183411589G>A	NCBI36
NG_017197.1:g.33155C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295113.5:c.593-3C>T MANE Select	ENSP00000295113.4:n.593-3C>T
ENST00000295113.4:c.593-3C>T	ENSP00000295113.4:n.593-3C>T
NM_001463.3:c.593-3C>T	NP_001454.2:n.593-3C>T
NM_001463.4:c.593-3C>T MANE Select	NP_001454.2:n.593-3C>T