Canonical Allele Identifier: CA2116783
Gene: IHH HGNC NCBI

Linked Data

ClinVar Variation Id: 2770840
ClinVar RCV Id: RCV003580878
dbSNP Id: rs761363200
ExAC: 2:219925170 C / T
gnomAD v2: 2-219925170-C-T
gnomAD v4: 2-219060448-C-T
MyVariant Identifiers: chr2:g.219925170C>T (hg19) chr2:g.219060448C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219060448C>T , CM000664.2:g.219060448C>T GRCh38
NC_000002.11:g.219925170C>T , CM000664.1:g.219925170C>T GRCh37
NC_000002.10:g.219633414C>T NCBI36
NG_016741.1:g.5069G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295731.7:c.20G>A MANE Select ENSP00000295731.5:p.Arg7Gln
ENST00000295731.6:c.20G>A ENSP00000295731.5:p.Arg7Gln
NM_002181.3:c.20G>A NP_002172.2:p.Arg7Gln
NM_002181.4:c.20G>A MANE Select NP_002172.2:p.Arg7Gln
Search 100 bp 5'
Search 100 bp 3'