Canonical Allele Identifier: CA539841237

Gene: IHH

Linked Data

• dbSNP Id: rs1182716316
• gnomAD v2: 2-219925141-ACAGGAC-A
• MyVariant Identifiers: chr2:g.219925142_219925147del (hg19) ; chr2:g.219060420_219060425del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219060424_219060429del , CM000664.2:g.219060424_219060429del	GRCh38
NC_000002.11:g.219925146_219925151del , CM000664.1:g.219925146_219925151del	GRCh37
NC_000002.10:g.219633390_219633395del	NCBI36
NG_016741.1:g.5092_5097del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295731.7:c.43_48del MANE Select	ENSP00000295731.5:p.Val15_Leu16del
ENST00000295731.6:c.43_48del	ENSP00000295731.5:p.Val15_Leu16del
NM_002181.3:c.43_48del	NP_002172.2:p.Val15_Leu16del
NM_002181.4:c.43_48del MANE Select	NP_002172.2:p.Val15_Leu16del