Canonical Allele Identifier: CA539841252
Gene: IHH HGNC NCBI

Linked Data

dbSNP Id: rs1365284499
gnomAD v2: 2-219925222-TCTC-T
gnomAD v4: 2-219060500-TCTC-T
MyVariant Identifiers: chr2:g.219925223_219925225del (hg19) chr2:g.219060501_219060503del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219060503_219060505del , CM000664.2:g.219060503_219060505del GRCh38
NC_000002.11:g.219925225_219925227del , CM000664.1:g.219925225_219925227del GRCh37
NC_000002.10:g.219633469_219633471del NCBI36
NG_016741.1:g.5014_5016del

Transcript Alleles

HGVS Amino-acid Change
ENST00000295731.7:c.-36_-34del MANE Select ENSP00000295731.5:n.-36_-34del
NM_002181.3:c.-36_-34del NP_002172.2:n.-36_-34del
NM_002181.4:c.-36_-34del MANE Select NP_002172.2:n.-36_-34del
Search 100 bp 5'
Search 100 bp 3'