Canonical Allele Identifier: CA300475

Gene: XRCC2

Linked Data

• ClinVar Variation Id: 182996
• ClinVar RCV Id: RCV000765951 ; RCV000767011 ; RCV001024734 ; RCV001818361
• dbSNP Id: rs149099078
• ExAC: 7:152345974 A / G
• gnomAD v2: 7-152345974-A-G
• gnomAD v3: 7-152648889-A-G
• gnomAD v4: 7-152648889-A-G
• MyVariant Identifiers: chr7:g.152345974A>G (hg19) ; chr7:g.152648889A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152648889A>G , CM000669.2:g.152648889A>G	GRCh38
NC_000007.13:g.152345974A>G , CM000669.1:g.152345974A>G	GRCh37
NC_000007.12:g.151976907A>G	NCBI36
NG_027988.1:g.32277T>C
NG_027988.2:g.32277T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698506.1:c.428T>C	ENSP00000513758.1:p.Met143Thr
ENST00000359321.2:c.596T>C MANE Select	ENSP00000352271.1:p.Met199Thr
ENST00000359321.1:c.596T>C	ENSP00000352271.1:p.Met199Thr
ENST00000495707.1:n.618T>C
NM_005431.1:c.596T>C	NP_005422.1:p.Met199Thr
NM_005431.2:c.596T>C MANE Select	NP_005422.1:p.Met199Thr