Canonical Allele Identifier: CA288130

Gene: XRCC2

Linked Data

• ClinVar Variation Id: 127954
• ClinVar RCV Id: RCV000115888 ; RCV000570999 ; RCV000791415 ; RCV000988018 ; RCV003945051
• dbSNP Id: rs140214637
• ExAC: 7:152346287 T / C
• gnomAD v2: 7-152346287-T-C
• gnomAD v3: 7-152649202-T-C
• gnomAD v4: 7-152649202-T-C
• MyVariant Identifiers: chr7:g.152346287T>C (hg19) ; chr7:g.152649202T>C (hg38)
• PubMed: PMID:22464251

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152649202T>C , CM000669.2:g.152649202T>C	GRCh38
NC_000007.13:g.152346287T>C , CM000669.1:g.152346287T>C	GRCh37
NC_000007.12:g.151977220T>C	NCBI36
NG_027988.1:g.31964A>G
NG_027988.2:g.31964A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698506.1:c.115A>G	ENSP00000513758.1:p.Ile39Val
ENST00000359321.2:c.283A>G MANE Select	ENSP00000352271.1:p.Ile95Val
ENST00000359321.1:c.283A>G	ENSP00000352271.1:p.Ile95Val
ENST00000495707.1:n.305A>G
NM_005431.1:c.283A>G	NP_005422.1:p.Ile95Val
NM_005431.2:c.283A>G MANE Select	NP_005422.1:p.Ile95Val