Canonical Allele Identifier: CA2116771

Gene: IHH

Linked Data

• dbSNP Id: rs749484451
• ExAC: 2:219925072 G / T
• gnomAD v2: 2-219925072-G-T
• gnomAD v3: 2-219060350-G-T
• gnomAD v4: 2-219060350-G-T
• MyVariant Identifiers: chr2:g.219925072G>T (hg19) ; chr2:g.219060350G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219060350G>T , CM000664.2:g.219060350G>T	GRCh38
NC_000002.11:g.219925072G>T , CM000664.1:g.219925072G>T	GRCh37
NC_000002.10:g.219633316G>T	NCBI36
NG_016741.1:g.5167C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295731.7:c.118C>A MANE Select	ENSP00000295731.5:p.Pro40Thr
ENST00000295731.6:c.118C>A	ENSP00000295731.5:p.Pro40Thr
NM_002181.3:c.118C>A	NP_002172.2:p.Pro40Thr
NM_002181.4:c.118C>A MANE Select	NP_002172.2:p.Pro40Thr