Canonical Allele Identifier: CA538123210

Gene: FRZB

Linked Data

• dbSNP Id: rs1197375809
• gnomAD v2: 2-183703435-C-A
• gnomAD v3: 2-182838707-C-A
• gnomAD v4: 2-182838707-C-A
• MyVariant Identifiers: chr2:g.183703435C>A (hg19) ; chr2:g.182838707C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.182838707C>A , CM000664.2:g.182838707C>A	GRCh38
NC_000002.11:g.183703435C>A , CM000664.1:g.183703435C>A	GRCh37
NC_000002.10:g.183411680C>A	NCBI36
NG_017197.1:g.33064G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295113.5:c.593-94G>T MANE Select	ENSP00000295113.4:n.593-94G>T
ENST00000295113.4:c.593-94G>T	ENSP00000295113.4:n.593-94G>T
NM_001463.3:c.593-94G>T	NP_001454.2:n.593-94G>T
NM_001463.4:c.593-94G>T MANE Select	NP_001454.2:n.593-94G>T