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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:
CA119973
Gene: IHH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
8866
ClinVar RCV Id:
RCV003555989
dbSNP Id:
rs121917852
MyVariant Identifiers:
chr2:g.219924907C>T (hg19)
chr2:g.219060185C>T (hg38)
PubMed:
PMID:11455389
PMID:18794898
PMID:19252479
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.219060185C>T , CM000664.2:g.219060185C>T
GRCh38
NC_000002.11:g.219924907C>T , CM000664.1:g.219924907C>T
GRCh37
NC_000002.10:g.219633151C>T
NCBI36
NG_016741.1:g.5332G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000295731.7:c.283G>A
MANE Select
ENSP00000295731.5:p.Glu95Lys
ENST00000295731.6:c.283G>A
ENSP00000295731.5:p.Glu95Lys
NM_002181.3:c.283G>A
NP_002172.2:p.Glu95Lys
NM_002181.4:c.283G>A
MANE Select
NP_002172.2:p.Glu95Lys
Search 100 bp 5'
Search 100 bp 3'