Canonical Allele Identifier: CA370198828
Gene: XRCC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1734845
ClinVar RCV Id: RCV002363888 RCV003476955
dbSNP Id: rs1064794088
gnomAD v4: 7-152649108-A-C
MyVariant Identifiers: chr7:g.152346193A>C (hg19) chr7:g.152649108A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.152649108A>C , CM000669.2:g.152649108A>C GRCh38
NC_000007.13:g.152346193A>C , CM000669.1:g.152346193A>C GRCh37
NC_000007.12:g.151977126A>C NCBI36
NG_027988.1:g.32058T>G
NG_027988.2:g.32058T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000698506.1:c.209T>G ENSP00000513758.1:p.Leu70Ter
ENST00000359321.2:c.377T>G MANE Select ENSP00000352271.1:p.Leu126Ter
ENST00000359321.1:c.377T>G ENSP00000352271.1:p.Leu126Ter
ENST00000495707.1:n.399T>G
NM_005431.1:c.377T>G NP_005422.1:p.Leu126Ter
NM_005431.2:c.377T>G MANE Select NP_005422.1:p.Leu126Ter
Search 100 bp 5'
Search 100 bp 3'