Canonical Allele Identifier: CA370198419
Gene: XRCC2 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.152648922C>G
GRCh37 chr7:g.152346007C>G
Revel Score:
ENST00000359321 (MANE Select) 0.307
gnomAD v2:
7:152346007 C / G
gnomAD v3:
7:152648922 C / G
gnomAD v4:
chr7-152648922-C-G
Joint Max Group AF 2.8e-7 (NFE)
ClinVar RCV:
RCV001217558
RCV002348727
ClinVar Variation:
946652
dbSNP:
3218536
JSON-LD

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
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