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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:
CA10629063
Gene: HOXA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
359983
ClinVar RCV Id:
RCV000324905
dbSNP Id:
rs886062266
MyVariant Identifiers:
chr7:g.27141731T>C (hg19)
chr7:g.27102112T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.27102112T>C , CM000669.2:g.27102112T>C
GRCh38
NC_000007.13:g.27141731T>C , CM000669.1:g.27141731T>C
GRCh37
NC_000007.12:g.27108256T>C
NCBI36
NG_012078.1:g.5664A>G
NG_033087.1:g.11019T>C
NG_012078.2:g.5664A>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000222718.7:c.389A>G
MANE Select
ENSP00000222718.5:p.Lys130Arg
ENST00000222718.6:c.389A>G
ENSP00000222718.5:p.Lys130Arg
ENST00000612779.1:n.575A>G
NM_006735.3:c.389A>G
NP_006726.1:p.Lys130Arg
NM_006735.4:c.389A>G
MANE Select
NP_006726.1:p.Lys130Arg
Search 100 bp 5'
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