Canonical Allele Identifier: CA2579071949
Gene: XRCC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1758415
ClinVar RCV Id: RCV002380211
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.152648742_152648754dup , CM000669.2:g.152648742_152648754dup GRCh38
NC_000007.13:g.152345827_152345839dup , CM000669.1:g.152345827_152345839dup GRCh37
NC_000007.12:g.151976760_151976772dup NCBI36
NG_027988.1:g.32415_32427dup
NG_027988.2:g.32415_32427dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000698506.1:c.566_578dup ENSP00000513758.1:p.Ser193ArgfsTer2
ENST00000359321.2:c.734_746dup MANE Select ENSP00000352271.1:p.Ser249ArgfsTer2
ENST00000359321.1:c.734_746dup ENSP00000352271.1:p.Ser249ArgfsTer2
ENST00000495707.1:n.756_768dup
NM_005431.1:c.734_746dup NP_005422.1:p.Ser249ArgfsTer2
NM_005431.2:c.734_746dup MANE Select NP_005422.1:p.Ser249ArgfsTer2
Search 100 bp 5'
Search 100 bp 3'