Canonical Allele Identifier: CA350636632

Gene: IHH

Linked Data

• gnomAD v4: 2-219060163-A-G
• MyVariant Identifiers: chr2:g.219924885A>G (hg19) ; chr2:g.219060163A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219060163A>G , CM000664.2:g.219060163A>G	GRCh38
NC_000002.11:g.219924885A>G , CM000664.1:g.219924885A>G	GRCh37
NC_000002.10:g.219633129A>G	NCBI36
NG_016741.1:g.5354T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295731.7:c.305T>C MANE Select	ENSP00000295731.5:p.Leu102Pro
ENST00000295731.6:c.305T>C	ENSP00000295731.5:p.Leu102Pro
NM_002181.3:c.305T>C	NP_002172.2:p.Leu102Pro
NM_002181.4:c.305T>C MANE Select	NP_002172.2:p.Leu102Pro