Canonical Allele Identifier: CA4582329
Gene: XRCC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 940168
ClinVar RCV Id: RCV001209698 RCV002348684
dbSNP Id: rs774238097
ExAC: 7:152346005 G / T
gnomAD v2: 7-152346005-G-T
gnomAD v4: 7-152648920-G-T
MyVariant Identifiers: chr7:g.152346005G>T (hg19) chr7:g.152648920G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.152648920G>T , CM000669.2:g.152648920G>T GRCh38
NC_000007.13:g.152346005G>T , CM000669.1:g.152346005G>T GRCh37
NC_000007.12:g.151976938G>T NCBI36
NG_027988.1:g.32246C>A
NG_027988.2:g.32246C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000698506.1:c.397C>A ENSP00000513758.1:p.Leu133Met
ENST00000359321.2:c.565C>A MANE Select ENSP00000352271.1:p.Leu189Met
ENST00000359321.1:c.565C>A ENSP00000352271.1:p.Leu189Met
ENST00000495707.1:n.587C>A
NM_005431.1:c.565C>A NP_005422.1:p.Leu189Met
NM_005431.2:c.565C>A MANE Select NP_005422.1:p.Leu189Met
Search 100 bp 5'
Search 100 bp 3'