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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:
CA370198405
Gene: XRCC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
847114
ClinVar RCV Id:
RCV001050590
dbSNP Id:
rs2098027274
COSMIC:
COSM206353
MyVariant Identifiers:
chr7:g.152345999G>T (hg19)
chr7:g.152648914G>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.152648914G>T , CM000669.2:g.152648914G>T
GRCh38
NC_000007.13:g.152345999G>T , CM000669.1:g.152345999G>T
GRCh37
NC_000007.12:g.151976932G>T
NCBI36
NG_027988.1:g.32252C>A
NG_027988.2:g.32252C>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000698506.1:c.403C>A
ENSP00000513758.1:p.Leu135Ile
ENST00000359321.2:c.571C>A
MANE Select
ENSP00000352271.1:p.Leu191Ile
ENST00000359321.1:c.571C>A
ENSP00000352271.1:p.Leu191Ile
ENST00000495707.1:n.593C>A
NM_005431.1:c.571C>A
NP_005422.1:p.Leu191Ile
NM_005431.2:c.571C>A
MANE Select
NP_005422.1:p.Leu191Ile
Search 100 bp 5'
Search 100 bp 3'