Canonical Allele Identifier: CA61680015
Gene: FRZB HGNC NCBI

Linked Data

dbSNP Id: rs1039582810
gnomAD v4: 2-182838378-A-T
MyVariant Identifiers: chr2:g.183703106A>T (hg19) chr2:g.182838378A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.182838378A>T , CM000664.2:g.182838378A>T GRCh38
NC_000002.11:g.183703106A>T , CM000664.1:g.183703106A>T GRCh37
NC_000002.10:g.183411351A>T NCBI36
NG_017197.1:g.33393T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295113.5:c.797+31T>A MANE Select ENSP00000295113.4:n.797+31T>A
ENST00000295113.4:c.797+31T>A ENSP00000295113.4:n.797+31T>A
NM_001463.3:c.797+31T>A NP_001454.2:n.797+31T>A
NM_001463.4:c.797+31T>A MANE Select NP_001454.2:n.797+31T>A
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