Canonical Allele Identifier: CA288141

Gene: XRCC2

Linked Data

• ClinVar Variation Id: 127960
• ClinVar RCV Id: RCV000115894 ; RCV000211556 ; RCV000571792 ; RCV000791413 ; RCV000988014
• dbSNP Id: rs61762969
• ExAC: 7:152345950 T / C
• gnomAD v2: 7-152345950-T-C
• gnomAD v3: 7-152648865-T-C
• gnomAD v4: 7-152648865-T-C
• MyVariant Identifiers: chr7:g.152345950T>C (hg19) ; chr7:g.152648865T>C (hg38)
• PubMed: PMID:23054243 ; PMID:25637381 ; PMID:27233470

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152648865T>C , CM000669.2:g.152648865T>C	GRCh38
NC_000007.13:g.152345950T>C , CM000669.1:g.152345950T>C	GRCh37
NC_000007.12:g.151976883T>C	NCBI36
NG_027988.1:g.32301A>G
NG_027988.2:g.32301A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698506.1:c.452A>G	ENSP00000513758.1:p.Glu151Gly
ENST00000359321.2:c.620A>G MANE Select	ENSP00000352271.1:p.Glu207Gly
ENST00000359321.1:c.620A>G	ENSP00000352271.1:p.Glu207Gly
ENST00000495707.1:n.642A>G
NM_005431.1:c.620A>G	NP_005422.1:p.Glu207Gly
NM_005431.2:c.620A>G MANE Select	NP_005422.1:p.Glu207Gly