Canonical Allele Identifier: CA2013932

Gene: FRZB

Linked Data

• dbSNP Id: rs757768560
• ExAC: 2:183703121 T / C
• gnomAD v2: 2-183703121-T-C
• gnomAD v3: 2-182838393-T-C
• gnomAD v4: 2-182838393-T-C
• MyVariant Identifiers: chr2:g.183703121T>C (hg19) ; chr2:g.182838393T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.182838393T>C , CM000664.2:g.182838393T>C	GRCh38
NC_000002.11:g.183703121T>C , CM000664.1:g.183703121T>C	GRCh37
NC_000002.10:g.183411366T>C	NCBI36
NG_017197.1:g.33378A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295113.5:c.797+16A>G MANE Select	ENSP00000295113.4:n.797+16A>G
ENST00000295113.4:c.797+16A>G	ENSP00000295113.4:n.797+16A>G
NM_001463.3:c.797+16A>G	NP_001454.2:n.797+16A>G
NM_001463.4:c.797+16A>G MANE Select	NP_001454.2:n.797+16A>G