Canonical Allele Identifier: CA370198419

Gene: XRCC2

Linked Data

• ClinVar Variation Id: 946652
• ClinVar RCV Id: RCV001217558 ; RCV002348727
• dbSNP Id: rs3218536
• gnomAD v2: 7-152346007-C-G
• gnomAD v3: 7-152648922-C-G
• gnomAD v4: 7-152648922-C-G
• MyVariant Identifiers: chr7:g.152346007C>G (hg19) ; chr7:g.152648922C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152648922C>G , CM000669.2:g.152648922C>G	GRCh38
NC_000007.13:g.152346007C>G , CM000669.1:g.152346007C>G	GRCh37
NC_000007.12:g.151976940C>G	NCBI36
NG_027988.1:g.32244G>C
NG_027988.2:g.32244G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000698506.1:c.395G>C	ENSP00000513758.1:p.Arg132Pro
ENST00000359321.2:c.563G>C MANE Select	ENSP00000352271.1:p.Arg188Pro
ENST00000359321.1:c.563G>C	ENSP00000352271.1:p.Arg188Pro
ENST00000495707.1:n.585G>C
NM_005431.1:c.563G>C	NP_005422.1:p.Arg188Pro
NM_005431.2:c.563G>C MANE Select	NP_005422.1:p.Arg188Pro