Canonical Allele Identifier: CA2116752
Gene: IHH HGNC NCBI

Linked Data

ClinVar Variation Id: 1941399
ClinVar RCV Id: RCV002643125
dbSNP Id: rs770078663
ExAC: 2:219924977 G / A
gnomAD v2: 2-219924977-G-A
gnomAD v4: 2-219060255-G-A
MyVariant Identifiers: chr2:g.219924977G>A (hg19) chr2:g.219060255G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219060255G>A , CM000664.2:g.219060255G>A GRCh38
NC_000002.11:g.219924977G>A , CM000664.1:g.219924977G>A GRCh37
NC_000002.10:g.219633221G>A NCBI36
NG_016741.1:g.5262C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295731.7:c.213C>T MANE Select ENSP00000295731.5:p.Ile71=
ENST00000295731.6:c.213C>T ENSP00000295731.5:p.Ile71=
NM_002181.3:c.213C>T NP_002172.2:p.Ile71=
NM_002181.4:c.213C>T MANE Select NP_002172.2:p.Ile71=
Search 100 bp 5'
Search 100 bp 3'