Canonical Allele Identifier: CA350637315

Gene: IHH

Linked Data

• MyVariant Identifiers: chr2:g.219925047G>C (hg19) ; chr2:g.219060325G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219060325G>C , CM000664.2:g.219060325G>C	GRCh38
NC_000002.11:g.219925047G>C , CM000664.1:g.219925047G>C	GRCh37
NC_000002.10:g.219633291G>C	NCBI36
NG_016741.1:g.5192C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295731.7:c.143C>G MANE Select	ENSP00000295731.5:p.Ala48Gly
ENST00000295731.6:c.143C>G	ENSP00000295731.5:p.Ala48Gly
NM_002181.3:c.143C>G	NP_002172.2:p.Ala48Gly
NM_002181.4:c.143C>G MANE Select	NP_002172.2:p.Ala48Gly