Canonical Allele Identifier: CA431419779
Gene: IHH HGNC NCBI

Linked Data

ClinVar Variation Id: 3056112
ClinVar RCV Id: RCV003976695
dbSNP Id: rs904571891
gnomAD v4: 2-219060443-G-T
MyVariant Identifiers: chr2:g.219925165G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219060443G>T , CM000664.2:g.219060443G>T GRCh38
NC_000002.11:g.219925165G>T , CM000664.1:g.219925165G>T GRCh37
NC_000002.10:g.219633409G>T NCBI36
NG_016741.1:g.5074C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295731.7:c.25C>A MANE Select ENSP00000295731.5:p.Arg9=
ENST00000295731.6:c.25C>A ENSP00000295731.5:p.Arg9=
NM_002181.3:c.25C>A NP_002172.2:p.Arg9=
NM_002181.4:c.25C>A MANE Select NP_002172.2:p.Arg9=
Search 100 bp 5'
Search 100 bp 3'