Canonical Allele Identifier: CA350637325

Gene: IHH

Linked Data

• MyVariant Identifiers: chr2:g.219925050A>T (hg19) ; chr2:g.219060328A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219060328A>T , CM000664.2:g.219060328A>T	GRCh38
NC_000002.11:g.219925050A>T , CM000664.1:g.219925050A>T	GRCh37
NC_000002.10:g.219633294A>T	NCBI36
NG_016741.1:g.5189T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295731.7:c.140T>A MANE Select	ENSP00000295731.5:p.Leu47His
ENST00000295731.6:c.140T>A	ENSP00000295731.5:p.Leu47His
NM_002181.3:c.140T>A	NP_002172.2:p.Leu47His
NM_002181.4:c.140T>A MANE Select	NP_002172.2:p.Leu47His