Canonical Allele Identifier: CA4582377

Gene: XRCC2

Linked Data

• ClinVar Variation Id: 245958
• ClinVar RCV Id: RCV000657067 ; RCV000765952 ; RCV001013301
• dbSNP Id: rs569810249
• ExAC: 7:152346389 G / T
• gnomAD v2: 7-152346389-G-T
• gnomAD v3: 7-152649304-G-T
• gnomAD v4: 7-152649304-G-T
• COSMIC: COSM4914296
• MyVariant Identifiers: chr7:g.152346389G>T (hg19) ; chr7:g.152649304G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152649304G>T , CM000669.2:g.152649304G>T	GRCh38
NC_000007.13:g.152346389G>T , CM000669.1:g.152346389G>T	GRCh37
NC_000007.12:g.151977322G>T	NCBI36
NG_027988.1:g.31862C>A
NG_027988.2:g.31862C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698506.1:c.13C>A	ENSP00000513758.1:p.Leu5Ile
ENST00000359321.2:c.181C>A MANE Select	ENSP00000352271.1:p.Leu61Ile
ENST00000359321.1:c.181C>A	ENSP00000352271.1:p.Leu61Ile
ENST00000495707.1:n.203C>A
NM_005431.1:c.181C>A	NP_005422.1:p.Leu61Ile
NM_005431.2:c.181C>A MANE Select	NP_005422.1:p.Leu61Ile