Canonical Allele Identifier: CA2116779
Gene: IHH HGNC NCBI

Linked Data

ClinVar Variation Id: 2628674
ClinVar RCV Id: RCV003420704 RCV003730570 RCV004362774
dbSNP Id: rs775302381
ExAC: 2:219925153 A / G
gnomAD v2: 2-219925153-A-G
gnomAD v3: 2-219060431-A-G
gnomAD v4: 2-219060431-A-G
MyVariant Identifiers: chr2:g.219925153A>G (hg19) chr2:g.219060431A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219060431A>G , CM000664.2:g.219060431A>G GRCh38
NC_000002.11:g.219925153A>G , CM000664.1:g.219925153A>G GRCh37
NC_000002.10:g.219633397A>G NCBI36
NG_016741.1:g.5086T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295731.7:c.37T>C MANE Select ENSP00000295731.5:p.Cys13Arg
ENST00000295731.6:c.37T>C ENSP00000295731.5:p.Cys13Arg
NM_002181.3:c.37T>C NP_002172.2:p.Cys13Arg
NM_002181.4:c.37T>C MANE Select NP_002172.2:p.Cys13Arg
Search 100 bp 5'
Search 100 bp 3'