Canonical Allele Identifier: CA2116748

Gene: IHH

Linked Data

• ClinVar Variation Id: 334444
• ClinVar RCV Id: RCV000348092 ; RCV002521396
• dbSNP Id: rs142036701
• ExAC: 2:219924961 G / T
• gnomAD v2: 2-219924961-G-T
• gnomAD v3: 2-219060239-G-T
• gnomAD v4: 2-219060239-G-T
• MyVariant Identifiers: chr2:g.219924961G>T (hg19) ; chr2:g.219060239G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219060239G>T , CM000664.2:g.219060239G>T	GRCh38
NC_000002.11:g.219924961G>T , CM000664.1:g.219924961G>T	GRCh37
NC_000002.10:g.219633205G>T	NCBI36
NG_016741.1:g.5278C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295731.7:c.229C>A MANE Select	ENSP00000295731.5:p.Arg77Ser
ENST00000295731.6:c.229C>A	ENSP00000295731.5:p.Arg77Ser
NM_002181.3:c.229C>A	NP_002172.2:p.Arg77Ser
NM_002181.4:c.229C>A MANE Select	NP_002172.2:p.Arg77Ser