Canonical Allele Identifier: CA4582314

Gene: XRCC2

Linked Data

• ClinVar Variation Id: 486728
• ClinVar RCV Id: RCV000567327 ; RCV001066340 ; RCV002483544
• dbSNP Id: rs765021741
• ExAC: 7:152345911 T / A
• gnomAD v2: 7-152345911-T-A
• gnomAD v3: 7-152648826-T-A
• gnomAD v4: 7-152648826-T-A
• MyVariant Identifiers: chr7:g.152345911T>A (hg19) ; chr7:g.152648826T>A (hg38)
• PubMed: PMID:23054243

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152648826T>A , CM000669.2:g.152648826T>A	GRCh38
NC_000007.13:g.152345911T>A , CM000669.1:g.152345911T>A	GRCh37
NC_000007.12:g.151976844T>A	NCBI36
NG_027988.1:g.32340A>T
NG_027988.2:g.32340A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698506.1:c.491A>T	ENSP00000513758.1:p.Asp164Val
ENST00000359321.2:c.659A>T MANE Select	ENSP00000352271.1:p.Asp220Val
ENST00000359321.1:c.659A>T	ENSP00000352271.1:p.Asp220Val
ENST00000495707.1:n.681A>T
NM_005431.1:c.659A>T	NP_005422.1:p.Asp220Val
NM_005431.2:c.659A>T MANE Select	NP_005422.1:p.Asp220Val