Canonical Allele Identifier: CA4582355
Gene: XRCC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 656283
ClinVar RCV Id: RCV000812670 RCV002336678
dbSNP Id: rs185815454
ExAC: 7:152346217 A / G
gnomAD v2: 7-152346217-A-G
gnomAD v3: 7-152649132-A-G
gnomAD v4: 7-152649132-A-G
MyVariant Identifiers: chr7:g.152346217A>G (hg19) chr7:g.152649132A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.152649132A>G , CM000669.2:g.152649132A>G GRCh38
NC_000007.13:g.152346217A>G , CM000669.1:g.152346217A>G GRCh37
NC_000007.12:g.151977150A>G NCBI36
NG_027988.1:g.32034T>C
NG_027988.2:g.32034T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000698506.1:c.185T>C ENSP00000513758.1:p.Val62Ala
ENST00000359321.2:c.353T>C MANE Select ENSP00000352271.1:p.Val118Ala
ENST00000359321.1:c.353T>C ENSP00000352271.1:p.Val118Ala
ENST00000495707.1:n.375T>C
NM_005431.1:c.353T>C NP_005422.1:p.Val118Ala
NM_005431.2:c.353T>C MANE Select NP_005422.1:p.Val118Ala
Search 100 bp 5'
Search 100 bp 3'