Canonical Allele Identifier: CA2116749

Gene: IHH

Linked Data

• ClinVar Variation Id: 334445
• ClinVar RCV Id: RCV000397747 ; RCV000934453
• dbSNP Id: rs150747743
• ExAC: 2:219924962 C / T
• gnomAD v2: 2-219924962-C-T
• gnomAD v3: 2-219060240-C-T
• gnomAD v4: 2-219060240-C-T
• MyVariant Identifiers: chr2:g.219924962C>T (hg19) ; chr2:g.219060240C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219060240C>T , CM000664.2:g.219060240C>T	GRCh38
NC_000002.11:g.219924962C>T , CM000664.1:g.219924962C>T	GRCh37
NC_000002.10:g.219633206C>T	NCBI36
NG_016741.1:g.5277G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295731.7:c.228G>A MANE Select	ENSP00000295731.5:p.Glu76=
ENST00000295731.6:c.228G>A	ENSP00000295731.5:p.Glu76=
NM_002181.3:c.228G>A	NP_002172.2:p.Glu76=
NM_002181.4:c.228G>A MANE Select	NP_002172.2:p.Glu76=