Canonical Allele Identifier: CA61657747

Gene: FRZB

Linked Data

• dbSNP Id: rs936451184
• gnomAD v3: 2-182838689-G-T
• gnomAD v4: 2-182838689-G-T
• MyVariant Identifiers: chr2:g.183703417G>T (hg19) ; chr2:g.182838689G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.182838689G>T , CM000664.2:g.182838689G>T	GRCh38
NC_000002.11:g.183703417G>T , CM000664.1:g.183703417G>T	GRCh37
NC_000002.10:g.183411662G>T	NCBI36
NG_017197.1:g.33082C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295113.5:c.593-76C>A MANE Select	ENSP00000295113.4:n.593-76C>A
ENST00000295113.4:c.593-76C>A	ENSP00000295113.4:n.593-76C>A
NM_001463.3:c.593-76C>A	NP_001454.2:n.593-76C>A
NM_001463.4:c.593-76C>A MANE Select	NP_001454.2:n.593-76C>A