Canonical Allele Identifier: CA300477

Gene: XRCC2

Linked Data

• ClinVar Variation Id: 182997
• ClinVar RCV Id: RCV000161109 ; RCV000726016 ; RCV000988015 ; RCV001024935
• dbSNP Id: rs56103026
• ExAC: 7:152345957 A / C
• gnomAD v2: 7-152345957-A-C
• gnomAD v3: 7-152648872-A-C
• gnomAD v4: 7-152648872-A-C
• MyVariant Identifiers: chr7:g.152345957A>C (hg19) ; chr7:g.152648872A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152648872A>C , CM000669.2:g.152648872A>C	GRCh38
NC_000007.13:g.152345957A>C , CM000669.1:g.152345957A>C	GRCh37
NC_000007.12:g.151976890A>C	NCBI36
NG_027988.1:g.32294T>G
NG_027988.2:g.32294T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698506.1:c.445T>G	ENSP00000513758.1:p.Ser149Ala
ENST00000359321.2:c.613T>G MANE Select	ENSP00000352271.1:p.Ser205Ala
ENST00000359321.1:c.613T>G	ENSP00000352271.1:p.Ser205Ala
ENST00000495707.1:n.635T>G
NM_005431.1:c.613T>G	NP_005422.1:p.Ser205Ala
NM_005431.2:c.613T>G MANE Select	NP_005422.1:p.Ser205Ala