Canonical Allele Identifier: CA291646
Gene: XRCC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 137931
ClinVar RCV Id: RCV000126345 RCV000566518 RCV000858752 RCV003975115
dbSNP Id: rs558977371
ExAC: 7:152346216 C / T
gnomAD v2: 7-152346216-C-T
gnomAD v3: 7-152649131-C-T
gnomAD v4: 7-152649131-C-T
MyVariant Identifiers: chr7:g.152346216C>T (hg19) chr7:g.152649131C>T (hg38)
PubMed: PMID:22464251
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.152649131C>T , CM000669.2:g.152649131C>T GRCh38
NC_000007.13:g.152346216C>T , CM000669.1:g.152346216C>T GRCh37
NC_000007.12:g.151977149C>T NCBI36
NG_027988.1:g.32035G>A
NG_027988.2:g.32035G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000698506.1:c.186G>A ENSP00000513758.1:p.Val62=
ENST00000359321.2:c.354G>A MANE Select ENSP00000352271.1:p.Val118=
ENST00000359321.1:c.354G>A ENSP00000352271.1:p.Val118=
ENST00000495707.1:n.376G>A
NM_005431.1:c.354G>A NP_005422.1:p.Val118=
NM_005431.2:c.354G>A MANE Select NP_005422.1:p.Val118=
Search 100 bp 5'
Search 100 bp 3'