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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:
CA350636723
Gene: IHH
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr2:g.219924912T>C (hg19)
chr2:g.219060190T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.219060190T>C , CM000664.2:g.219060190T>C
GRCh38
NC_000002.11:g.219924912T>C , CM000664.1:g.219924912T>C
GRCh37
NC_000002.10:g.219633156T>C
NCBI36
NG_016741.1:g.5327A>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000295731.7:c.278A>G
MANE Select
ENSP00000295731.5:p.Asp93Gly
ENST00000295731.6:c.278A>G
ENSP00000295731.5:p.Asp93Gly
NM_002181.3:c.278A>G
NP_002172.2:p.Asp93Gly
NM_002181.4:c.278A>G
MANE Select
NP_002172.2:p.Asp93Gly
Search 100 bp 5'
Search 100 bp 3'