Canonical Allele Identifier: CA2013974
Gene: FRZB HGNC NCBI

Linked Data

dbSNP Id: rs369134765
ExAC: 2:183703367 A / G
gnomAD v2: 2-183703367-A-G
gnomAD v3: 2-182838639-A-G
gnomAD v4: 2-182838639-A-G
MyVariant Identifiers: chr2:g.183703367A>G (hg19) chr2:g.182838639A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.182838639A>G , CM000664.2:g.182838639A>G GRCh38
NC_000002.11:g.183703367A>G , CM000664.1:g.183703367A>G GRCh37
NC_000002.10:g.183411612A>G NCBI36
NG_017197.1:g.33132T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295113.5:c.593-26T>C MANE Select ENSP00000295113.4:n.593-26T>C
ENST00000295113.4:c.593-26T>C ENSP00000295113.4:n.593-26T>C
NM_001463.3:c.593-26T>C NP_001454.2:n.593-26T>C
NM_001463.4:c.593-26T>C MANE Select NP_001454.2:n.593-26T>C
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