Canonical Allele Identifier: CA4582289
Gene: XRCC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1762529
ClinVar RCV Id: RCV002427998
dbSNP Id: rs749684371
ExAC: 7:152345748 T / G
gnomAD v2: 7-152345748-T-G
gnomAD v3: 7-152648663-T-G
gnomAD v4: 7-152648663-T-G
MyVariant Identifiers: chr7:g.152345748T>G (hg19) chr7:g.152648663T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.152648663T>G , CM000669.2:g.152648663T>G GRCh38
NC_000007.13:g.152345748T>G , CM000669.1:g.152345748T>G GRCh37
NC_000007.12:g.151976681T>G NCBI36
NG_027988.1:g.32503A>C
NG_027988.2:g.32503A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000698506.1:c.654A>C ENSP00000513758.1:p.Glu218Asp
ENST00000359321.2:c.822A>C MANE Select ENSP00000352271.1:p.Glu274Asp
ENST00000359321.1:c.822A>C ENSP00000352271.1:p.Glu274Asp
ENST00000495707.1:n.844A>C
NM_005431.1:c.822A>C NP_005422.1:p.Glu274Asp
NM_005431.2:c.822A>C MANE Select NP_005422.1:p.Glu274Asp
Search 100 bp 5'
Search 100 bp 3'