Canonical Allele Identifier: CA370198418
Gene: XRCC2 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.152648922C>A
GRCh37 chr7:g.152346007C>A
Revel Score:
ENST00000359321 (MANE Select) 0.197
gnomAD v4:
chr7-152648922-C-A
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
dbSNP:
3218536
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000698506.1:c.395G>T ENSP00000513758.1:p.Arg132Leu
ENST00000359321.2:c.563G>T MANE Select ENSP00000352271.1:p.Arg188Leu
ENST00000359321.1:c.563G>T ENSP00000352271.1:p.Arg188Leu
ENST00000495707.1:n.585G>T
NM_005431.1:c.563G>T NP_005422.1:p.Arg188Leu
NM_005431.2:c.563G>T MANE Select NP_005422.1:p.Arg188Leu
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