Canonical Allele Identifier: CA4582301
Gene: XRCC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1692900
ClinVar RCV Id: RCV002258713
dbSNP Id: rs781507499
ExAC: 7:152345824 C / G
gnomAD v2: 7-152345824-C-G
gnomAD v4: 7-152648739-C-G
MyVariant Identifiers: chr7:g.152345824C>G (hg19) chr7:g.152648739C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.152648739C>G , CM000669.2:g.152648739C>G GRCh38
NC_000007.13:g.152345824C>G , CM000669.1:g.152345824C>G GRCh37
NC_000007.12:g.151976757C>G NCBI36
NG_027988.1:g.32427G>C
NG_027988.2:g.32427G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000698506.1:c.578G>C ENSP00000513758.1:p.Ser193Thr
ENST00000359321.2:c.746G>C MANE Select ENSP00000352271.1:p.Ser249Thr
ENST00000359321.1:c.746G>C ENSP00000352271.1:p.Ser249Thr
ENST00000495707.1:n.768G>C
NM_005431.1:c.746G>C NP_005422.1:p.Ser249Thr
NM_005431.2:c.746G>C MANE Select NP_005422.1:p.Ser249Thr
Search 100 bp 5'
Search 100 bp 3'