Canonical Allele Identifier: CA2116763
Gene: IHH HGNC NCBI

Linked Data

dbSNP Id: rs758059980
ExAC: 2:219925048 C / T
gnomAD v2: 2-219925048-C-T
gnomAD v4: 2-219060326-C-T
MyVariant Identifiers: chr2:g.219925048C>T (hg19) chr2:g.219060326C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219060326C>T , CM000664.2:g.219060326C>T GRCh38
NC_000002.11:g.219925048C>T , CM000664.1:g.219925048C>T GRCh37
NC_000002.10:g.219633292C>T NCBI36
NG_016741.1:g.5191G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295731.7:c.142G>A MANE Select ENSP00000295731.5:p.Ala48Thr
ENST00000295731.6:c.142G>A ENSP00000295731.5:p.Ala48Thr
NM_002181.3:c.142G>A NP_002172.2:p.Ala48Thr
NM_002181.4:c.142G>A MANE Select NP_002172.2:p.Ala48Thr
Search 100 bp 5'
Search 100 bp 3'