Canonical Allele Identifier: CA61657780
Gene: FRZB HGNC NCBI

Linked Data

dbSNP Id: rs558179983
gnomAD v3: 2-182838796-C-T
gnomAD v4: 2-182838796-C-T
MyVariant Identifiers: chr2:g.183703524C>T (hg19) chr2:g.182838796C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.182838796C>T , CM000664.2:g.182838796C>T GRCh38
NC_000002.11:g.183703524C>T , CM000664.1:g.183703524C>T GRCh37
NC_000002.10:g.183411769C>T NCBI36
NG_017197.1:g.32975G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295113.5:c.593-183G>A MANE Select ENSP00000295113.4:n.593-183G>A
ENST00000295113.4:c.593-183G>A ENSP00000295113.4:n.593-183G>A
NM_001463.3:c.593-183G>A NP_001454.2:n.593-183G>A
NM_001463.4:c.593-183G>A MANE Select NP_001454.2:n.593-183G>A
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