Canonical Allele Identifier: CA350637663

Gene: IHH

Linked Data

• MyVariant Identifiers: chr2:g.219925134A>C (hg19) ; chr2:g.219060412A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219060412A>C , CM000664.2:g.219060412A>C	GRCh38
NC_000002.11:g.219925134A>C , CM000664.1:g.219925134A>C	GRCh37
NC_000002.10:g.219633378A>C	NCBI36
NG_016741.1:g.5105T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295731.7:c.56T>G MANE Select	ENSP00000295731.5:p.Leu19Arg
ENST00000295731.6:c.56T>G	ENSP00000295731.5:p.Leu19Arg
NM_002181.3:c.56T>G	NP_002172.2:p.Leu19Arg
NM_002181.4:c.56T>G MANE Select	NP_002172.2:p.Leu19Arg