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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA119981
Gene: IHH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
8873
ClinVar RCV Id:
RCV000009423
dbSNP Id:
rs121917861
MyVariant Identifiers:
chr2:g.219922271G>A (hg19)
chr2:g.219057549G>A (hg38)
PubMed:
PMID:16871364
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.219057549G>A , CM000664.2:g.219057549G>A
GRCh38
NC_000002.11:g.219922271G>A , CM000664.1:g.219922271G>A
GRCh37
NC_000002.10:g.219630515G>A
NCBI36
NG_016741.1:g.7968C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000295731.7:c.461C>T
MANE Select
ENSP00000295731.5:p.Thr154Ile
ENST00000295731.6:c.461C>T
ENSP00000295731.5:p.Thr154Ile
NM_002181.3:c.461C>T
NP_002172.2:p.Thr154Ile
NM_002181.4:c.461C>T
MANE Select
NP_002172.2:p.Thr154Ile
Search 100 bp 5'
Search 100 bp 3'