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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:
CA10584276
Gene: XRCC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
246355
ClinVar RCV Id:
RCV002365230
dbSNP Id:
rs879254219
MyVariant Identifiers:
chr7:g.152345920C>T (hg19)
chr7:g.152648835C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.152648835C>T , CM000669.2:g.152648835C>T
GRCh38
NC_000007.13:g.152345920C>T , CM000669.1:g.152345920C>T
GRCh37
NC_000007.12:g.151976853C>T
NCBI36
NG_027988.1:g.32331G>A
NG_027988.2:g.32331G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000698506.1:c.482G>A
ENSP00000513758.1:p.Cys161Tyr
ENST00000359321.2:c.650G>A
MANE Select
ENSP00000352271.1:p.Cys217Tyr
ENST00000359321.1:c.650G>A
ENSP00000352271.1:p.Cys217Tyr
ENST00000495707.1:n.672G>A
NM_005431.1:c.650G>A
NP_005422.1:p.Cys217Tyr
NM_005431.2:c.650G>A
MANE Select
NP_005422.1:p.Cys217Tyr
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