Canonical Allele Identifier: CA349734440
Gene: FRZB HGNC NCBI

Linked Data

dbSNP Id: rs372841486
gnomAD v4: 2-182838688-G-A
MyVariant Identifiers: chr2:g.183703416G>A (hg19) chr2:g.182838688G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.182838688G>A , CM000664.2:g.182838688G>A GRCh38
NC_000002.11:g.183703416G>A , CM000664.1:g.183703416G>A GRCh37
NC_000002.10:g.183411661G>A NCBI36
NG_017197.1:g.33083C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295113.5:c.593-75C>T MANE Select ENSP00000295113.4:n.593-75C>T
ENST00000295113.4:c.593-75C>T ENSP00000295113.4:n.593-75C>T
NM_001463.3:c.593-75C>T NP_001454.2:n.593-75C>T
NM_001463.4:c.593-75C>T MANE Select NP_001454.2:n.593-75C>T
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