Canonical Allele Identifier: CA300487
Gene: XRCC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 183003
dbSNP Id: rs730882048

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.152660728del , CM000669.2:g.152660728del GRCh38
NC_000007.13:g.152357813del , CM000669.1:g.152357813del GRCh37
NC_000007.12:g.151988746del NCBI36
NG_027988.1:g.20440del
NG_027988.2:g.20440del

Transcript Alleles

HGVS Amino-acid change
ENST00000698506.1:c.-47-11363del ENSP00000513758.1:n.-47-11363del
ENST00000698507.1:n.164del
ENST00000359321.2:c.96del MANE Select ENSP00000352271.1:p.Phe32LeufsTer30
ENST00000359321.1:c.96del ENSP00000352271.1:p.Phe32LeufsTer30
ENST00000495707.1:n.118del
NM_005431.1:c.96del NP_005422.1:p.Phe32LeufsTer30
NM_005431.2:c.96del MANE Select NP_005422.1:p.Phe32LeufsTer30