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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:
CA401339427
Gene: CBX2
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr17:g.77758473A>C (hg19)
chr17:g.79784674A>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.79784674A>C , CM000679.2:g.79784674A>C
GRCh38
NC_000017.10:g.77758473A>C , CM000679.1:g.77758473A>C
GRCh37
NC_000017.9:g.75373068A>C
NCBI36
NG_016986.1:g.11497A>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000310942.9:c.1231A>C
MANE Select
ENSP00000308750.4:p.Ser411Arg
ENST00000310942.8:c.1231A>C
ENSP00000308750.4:p.Ser411Arg
NM_005189.2:c.1231A>C
NP_005180.1:p.Ser411Arg
XM_011525382.1:c.1231A>C
XP_011523684.1:p.Ser411Arg
XM_011525383.1:c.976A>C
XP_011523685.1:p.Ser326Arg
XM_011525383.2:c.976A>C
XP_011523685.1:p.Ser326Arg
NM_005189.3:c.1231A>C
MANE Select
NP_005180.1:p.Ser411Arg
Search 100 bp 5'
Search 100 bp 3'