Canonical Allele Identifier: CA2116772
Gene: IHH HGNC NCBI

Linked Data

dbSNP Id: rs768851392
ExAC: 2:219925081 G / T
gnomAD v2: 2-219925081-G-T
gnomAD v4: 2-219060359-G-T
COSMIC: COSM4133470
MyVariant Identifiers: chr2:g.219925081G>T (hg19) chr2:g.219060359G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219060359G>T , CM000664.2:g.219060359G>T GRCh38
NC_000002.11:g.219925081G>T , CM000664.1:g.219925081G>T GRCh37
NC_000002.10:g.219633325G>T NCBI36
NG_016741.1:g.5158C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295731.7:c.109C>A MANE Select ENSP00000295731.5:p.Arg37Ser
ENST00000295731.6:c.109C>A ENSP00000295731.5:p.Arg37Ser
NM_002181.3:c.109C>A NP_002172.2:p.Arg37Ser
NM_002181.4:c.109C>A MANE Select NP_002172.2:p.Arg37Ser
Search 100 bp 5'
Search 100 bp 3'