Canonical Allele Identifier: CA539841237
Gene: IHH HGNC NCBI

Linked Data

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