Canonical Allele Identifier: CA2116616

Gene: IHH

Linked Data

• ClinVar Variation Id: 334439
• ClinVar RCV Id: RCV000293234 ; RCV000967825
• dbSNP Id: rs76479554
• ExAC: 2:219920410 T / C
• gnomAD v2: 2-219920410-T-C
• gnomAD v3: 2-219055688-T-C
• gnomAD v4: 2-219055688-T-C
• MyVariant Identifiers: chr2:g.219920410T>C (hg19) ; chr2:g.219055688T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219055688T>C , CM000664.2:g.219055688T>C	GRCh38
NC_000002.11:g.219920410T>C , CM000664.1:g.219920410T>C	GRCh37
NC_000002.10:g.219628654T>C	NCBI36
NG_016741.1:g.9829A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295731.7:c.755A>G MANE Select	ENSP00000295731.5:p.His252Arg
ENST00000295731.6:c.755A>G	ENSP00000295731.5:p.His252Arg
NM_002181.3:c.755A>G	NP_002172.2:p.His252Arg
NM_002181.4:c.755A>G MANE Select	NP_002172.2:p.His252Arg