Canonical Allele Identifier: CA2116783

Gene: IHH

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)

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