Canonical Allele Identifier: CA370198243

Gene: XRCC2

Linked Data

• ClinVar Variation Id: 1056473
• ClinVar RCV Id: RCV001365314 ; RCV002368181
• dbSNP Id: rs2116987269
• gnomAD v4: 7-152648832-T-C
• MyVariant Identifiers: chr7:g.152345917T>C (hg19) ; chr7:g.152648832T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152648832T>C , CM000669.2:g.152648832T>C	GRCh38
NC_000007.13:g.152345917T>C , CM000669.1:g.152345917T>C	GRCh37
NC_000007.12:g.151976850T>C	NCBI36
NG_027988.1:g.32334A>G
NG_027988.2:g.32334A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000698506.1:c.485A>G	ENSP00000513758.1:p.Asp162Gly
ENST00000359321.2:c.653A>G MANE Select	ENSP00000352271.1:p.Asp218Gly
ENST00000359321.1:c.653A>G	ENSP00000352271.1:p.Asp218Gly
ENST00000495707.1:n.675A>G
NM_005431.1:c.653A>G	NP_005422.1:p.Asp218Gly
NM_005431.2:c.653A>G MANE Select	NP_005422.1:p.Asp218Gly