Canonical Allele Identifier: CA350637782
Gene: IHH HGNC NCBI

Linked Data

dbSNP Id: rs1331119432
gnomAD v2: 2-219925171-G-A
gnomAD v4: 2-219060449-G-A
COSMIC: COSM3577878
MyVariant Identifiers: chr2:g.219925171G>A (hg19) chr2:g.219060449G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219060449G>A , CM000664.2:g.219060449G>A GRCh38
NC_000002.11:g.219925171G>A , CM000664.1:g.219925171G>A GRCh37
NC_000002.10:g.219633415G>A NCBI36
NG_016741.1:g.5068C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295731.7:c.19C>T MANE Select ENSP00000295731.5:p.Arg7Trp
ENST00000295731.6:c.19C>T ENSP00000295731.5:p.Arg7Trp
NM_002181.3:c.19C>T NP_002172.2:p.Arg7Trp
NM_002181.4:c.19C>T MANE Select NP_002172.2:p.Arg7Trp
Search 100 bp 5'
Search 100 bp 3'