Canonical Allele Identifier: CA300473

Gene: XRCC2

Linked Data

• ClinVar Variation Id: 182995
• ClinVar RCV Id: RCV000161107
• dbSNP Id: rs139219364
• ExAC: 7:152346008 G / A
• gnomAD v2: 7-152346008-G-A
• gnomAD v3: 7-152648923-G-A
• gnomAD v4: 7-152648923-G-A
• MyVariant Identifiers: chr7:g.152346008G>A (hg19) ; chr7:g.152648923G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152648923G>A , CM000669.2:g.152648923G>A	GRCh38
NC_000007.13:g.152346008G>A , CM000669.1:g.152346008G>A	GRCh37
NC_000007.12:g.151976941G>A	NCBI36
NG_027988.1:g.32243C>T
NG_027988.2:g.32243C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000698506.1:c.394C>T	ENSP00000513758.1:p.Arg132Cys
ENST00000359321.2:c.562C>T MANE Select	ENSP00000352271.1:p.Arg188Cys
ENST00000359321.1:c.562C>T	ENSP00000352271.1:p.Arg188Cys
ENST00000495707.1:n.584C>T
NM_005431.1:c.562C>T	NP_005422.1:p.Arg188Cys
NM_005431.2:c.562C>T MANE Select	NP_005422.1:p.Arg188Cys