Canonical Allele Identifier: CA539841236
Gene: IHH HGNC NCBI

Linked Data

dbSNP Id: rs1412082672
gnomAD v2: 2-219925097-AC-A
gnomAD v4: 2-219060375-AC-A
MyVariant Identifiers: chr2:g.219925098del (hg19) chr2:g.219060376del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219060378del , CM000664.2:g.219060378del GRCh38
NC_000002.11:g.219925100del , CM000664.1:g.219925100del GRCh37
NC_000002.10:g.219633344del NCBI36
NG_016741.1:g.5141del

Transcript Alleles

HGVS Amino-acid Change
ENST00000295731.7:c.92del MANE Select ENSP00000295731.5:p.Gly31ValfsTer?
ENST00000295731.6:c.92del ENSP00000295731.5:p.Gly31ValfsTer?
NM_002181.3:c.92del NP_002172.2:p.Gly31ValfsTer?
NM_002181.4:c.92del MANE Select NP_002172.2:p.Gly31ValfsTer?
Search 100 bp 5'
Search 100 bp 3'