Canonical Allele Identifier: CA2116762
Gene: IHH HGNC NCBI

Linked Data

ClinVar Variation Id: 1062126
ClinVar RCV Id: RCV001371806
dbSNP Id: rs752362743
ExAC: 2:219925047 G / A
gnomAD v2: 2-219925047-G-A
gnomAD v4: 2-219060325-G-A
MyVariant Identifiers: chr2:g.219925047G>A (hg19) chr2:g.219060325G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219060325G>A , CM000664.2:g.219060325G>A GRCh38
NC_000002.11:g.219925047G>A , CM000664.1:g.219925047G>A GRCh37
NC_000002.10:g.219633291G>A NCBI36
NG_016741.1:g.5192C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295731.7:c.143C>T MANE Select ENSP00000295731.5:p.Ala48Val
ENST00000295731.6:c.143C>T ENSP00000295731.5:p.Ala48Val
NM_002181.3:c.143C>T NP_002172.2:p.Ala48Val
NM_002181.4:c.143C>T MANE Select NP_002172.2:p.Ala48Val
Search 100 bp 5'
Search 100 bp 3'