Canonical Allele Identifier: CA4582316

Gene: XRCC2

Linked Data

• ClinVar Variation Id: 246108
• ClinVar RCV Id: RCV000235653 ; RCV000988013 ; RCV000564280
• dbSNP Id: rs762828701
• ExAC: 7:152345926 C / T
• gnomAD v2: 7-152345926-C-T
• gnomAD v4: 7-152648841-C-T
• MyVariant Identifiers: chr7:g.152345926C>T (hg19) ; chr7:g.152648841C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152648841C>T , CM000669.2:g.152648841C>T	GRCh38
NC_000007.13:g.152345926C>T , CM000669.1:g.152345926C>T	GRCh37
NC_000007.12:g.151976859C>T	NCBI36
NG_027988.1:g.32325G>A
NG_027988.2:g.32325G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698506.1:c.476G>A	ENSP00000513758.1:p.Arg159Gln
ENST00000359321.2:c.644G>A MANE Select	ENSP00000352271.1:p.Arg215Gln
ENST00000359321.1:c.644G>A	ENSP00000352271.1:p.Arg215Gln
ENST00000495707.1:n.666G>A
NM_005431.1:c.644G>A	NP_005422.1:p.Arg215Gln
NM_005431.2:c.644G>A MANE Select	NP_005422.1:p.Arg215Gln