Canonical Allele Identifier: CA2013976
Gene: FRZB HGNC NCBI

Linked Data

dbSNP Id: rs758231708
ExAC: 2:183703371 TA / T
gnomAD v2: 2-183703371-TA-T
gnomAD v4: 2-182838643-TA-T
MyVariant Identifiers: chr2:g.183703372del (hg19) chr2:g.182838644del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.182838645del , CM000664.2:g.182838645del GRCh38
NC_000002.11:g.183703373del , CM000664.1:g.183703373del GRCh37
NC_000002.10:g.183411618del NCBI36
NG_017197.1:g.33127del

Transcript Alleles

HGVS Amino-acid Change
ENST00000295113.5:c.593-31del MANE Select ENSP00000295113.4:n.593-31del
ENST00000295113.4:c.593-31del ENSP00000295113.4:n.593-31del
NM_001463.3:c.593-31del NP_001454.2:n.593-31del
NM_001463.4:c.593-31del MANE Select NP_001454.2:n.593-31del
Search 100 bp 5'
Search 100 bp 3'