Canonical Allele Identifier: CA2116786
Gene: IHH HGNC NCBI

Linked Data

dbSNP Id: rs768192539
ExAC: 2:219925181 G / GGGA
gnomAD v2: 2-219925181-G-GGGA
gnomAD v4: 2-219060459-G-GGGA
MyVariant Identifiers: chr2:g.219925181_219925182insGGA (hg19) chr2:g.219060459_219060460insGGA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219060461_219060463dup , CM000664.2:g.219060461_219060463dup GRCh38
NC_000002.11:g.219925183_219925185dup , CM000664.1:g.219925183_219925185dup GRCh37
NC_000002.10:g.219633427_219633429dup NCBI36
NG_016741.1:g.5055_5057dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000295731.7:c.6_8dup MANE Select ENSP00000295731.5:p.Pro3_Ala4insPro
ENST00000295731.6:c.6_8dup ENSP00000295731.5:p.Pro3_Ala4insPro
NM_002181.3:c.6_8dup NP_002172.2:p.Pro3_Ala4insPro
NM_002181.4:c.6_8dup MANE Select NP_002172.2:p.Pro3_Ala4insPro
Search 100 bp 5'
Search 100 bp 3'