Canonical Allele Identifier: CA128903

Gene: XRCC2

Linked Data

• ClinVar Variation Id: 30063
• ClinVar RCV Id: RCV000022966 ; RCV001261591 ; RCV000210083 ; RCV000236424
• dbSNP Id: rs143153871
• ExAC: 7:152345927 G / A
• gnomAD v2: 7-152345927-G-A
• gnomAD v3: 7-152648842-G-A
• gnomAD v4: 7-152648842-G-A
• MyVariant Identifiers: chr7:g.152345927G>A (hg19) ; chr7:g.152648842G>A (hg38)
• PubMed: PMID:11118202 ; PMID:22232082 ; PMID:26845104 ; PMID:27208205

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152648842G>A , CM000669.2:g.152648842G>A	GRCh38
NC_000007.13:g.152345927G>A , CM000669.1:g.152345927G>A	GRCh37
NC_000007.12:g.151976860G>A	NCBI36
NG_027988.1:g.32324C>T
NG_027988.2:g.32324C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698506.1:c.475C>T	ENSP00000513758.1:p.Arg159Ter
ENST00000359321.2:c.643C>T MANE Select	ENSP00000352271.1:p.Arg215Ter
ENST00000359321.1:c.643C>T	ENSP00000352271.1:p.Arg215Ter
ENST00000495707.1:n.665C>T
NM_005431.1:c.643C>T	NP_005422.1:p.Arg215Ter
NM_005431.2:c.643C>T MANE Select	NP_005422.1:p.Arg215Ter