Canonical Allele Identifier: CA119985
Gene: IHH HGNC NCBI

Linked Data

ClinVar Variation Id: 8876
ClinVar RCV Id: RCV000009426
dbSNP Id: rs267606872
MyVariant Identifiers: chr2:g.219922343G>T (hg19) chr2:g.219057621G>T (hg38)
PubMed: PMID:19277064
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219057621G>T , CM000664.2:g.219057621G>T GRCh38
NC_000002.11:g.219922343G>T , CM000664.1:g.219922343G>T GRCh37
NC_000002.10:g.219630587G>T NCBI36
NG_016741.1:g.7896C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000295731.7:c.389C>A MANE Select ENSP00000295731.5:p.Thr130Asn
ENST00000295731.6:c.389C>A ENSP00000295731.5:p.Thr130Asn
NM_002181.3:c.389C>A NP_002172.2:p.Thr130Asn
NM_002181.4:c.389C>A MANE Select NP_002172.2:p.Thr130Asn
Search 100 bp 5'
Search 100 bp 3'