Canonical Allele Identifier: CA288143

Gene: XRCC2

Linked Data

• ClinVar Variation Id: 127961
• ClinVar RCV Id: RCV000115895 ; RCV000417310 ; RCV001025247
• dbSNP Id: rs368445278
• ExAC: 7:152345929 C / T
• gnomAD v2: 7-152345929-C-T
• gnomAD v3: 7-152648844-C-T
• gnomAD v4: 7-152648844-C-T
• MyVariant Identifiers: chr7:g.152345929C>T (hg19) ; chr7:g.152648844C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152648844C>T , CM000669.2:g.152648844C>T	GRCh38
NC_000007.13:g.152345929C>T , CM000669.1:g.152345929C>T	GRCh37
NC_000007.12:g.151976862C>T	NCBI36
NG_027988.1:g.32322G>A
NG_027988.2:g.32322G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698506.1:c.473G>A	ENSP00000513758.1:p.Arg158Gln
ENST00000359321.2:c.641G>A MANE Select	ENSP00000352271.1:p.Arg214Gln
ENST00000359321.1:c.641G>A	ENSP00000352271.1:p.Arg214Gln
ENST00000495707.1:n.663G>A
NM_005431.1:c.641G>A	NP_005422.1:p.Arg214Gln
NM_005431.2:c.641G>A MANE Select	NP_005422.1:p.Arg214Gln