Canonical Allele Identifier: CA350637228

Gene: IHH

Linked Data

• MyVariant Identifiers: chr2:g.219925033T>A (hg19) ; chr2:g.219060311T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219060311T>A , CM000664.2:g.219060311T>A	GRCh38
NC_000002.11:g.219925033T>A , CM000664.1:g.219925033T>A	GRCh37
NC_000002.10:g.219633277T>A	NCBI36
NG_016741.1:g.5206A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295731.7:c.157A>T MANE Select	ENSP00000295731.5:p.Ser53Cys
ENST00000295731.6:c.157A>T	ENSP00000295731.5:p.Ser53Cys
NM_002181.3:c.157A>T	NP_002172.2:p.Ser53Cys
NM_002181.4:c.157A>T MANE Select	NP_002172.2:p.Ser53Cys