Canonical Allele Identifier: CA2013975
Gene: FRZB HGNC NCBI

Linked Data

dbSNP Id: rs769883437
ExAC: 2:183703368 T / C
gnomAD v2: 2-183703368-T-C
gnomAD v4: 2-182838640-T-C
MyVariant Identifiers: chr2:g.183703368T>C (hg19) chr2:g.182838640T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.182838640T>C , CM000664.2:g.182838640T>C GRCh38
NC_000002.11:g.183703368T>C , CM000664.1:g.183703368T>C GRCh37
NC_000002.10:g.183411613T>C NCBI36
NG_017197.1:g.33131A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295113.5:c.593-27A>G MANE Select ENSP00000295113.4:n.593-27A>G
ENST00000295113.4:c.593-27A>G ENSP00000295113.4:n.593-27A>G
NM_001463.3:c.593-27A>G NP_001454.2:n.593-27A>G
NM_001463.4:c.593-27A>G MANE Select NP_001454.2:n.593-27A>G
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