Canonical Allele Identifier: CA370198405
Gene: XRCC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 847114
ClinVar RCV Id: RCV001050590
dbSNP Id: rs2098027274
COSMIC: COSM206353

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