Canonical Allele Identifier: CA4582330
Gene: XRCC2 HGNC NCBI
COSMIC:
COSM4985226 (not active)
MyVariant.info:
GRCh38 chr7:g.152648922C>T
GRCh37 chr7:g.152346007C>T
Revel Score:
ENST00000359321 (MANE Select) 0.030
gnomAD v2:
7:152346007 C / T
gnomAD v3:
7:152648922 C / T
gnomAD v4:
chr7-152648922-C-T
Joint Max Group AF 0.10438979 (SAS)
Genomes Max Group AF 0.10213627 (SAS)
Exomes Max Group AF 0.10413558 (SAS)
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000698506.1:c.395G>A ENSP00000513758.1:p.Arg132His
ENST00000359321.2:c.563G>A MANE Select ENSP00000352271.1:p.Arg188His
ENST00000359321.1:c.563G>A ENSP00000352271.1:p.Arg188His
ENST00000495707.1:n.585G>A
NM_005431.1:c.563G>A NP_005422.1:p.Arg188His
NM_005431.2:c.563G>A MANE Select NP_005422.1:p.Arg188His
Search 100 bp 5'
Search 100 bp 3'