Canonical Allele Identifier: CA370198456
Gene: XRCC2 HGNC NCBI

Linked Data

dbSNP Id: rs2116987588
gnomAD v4: 7-152648938-G-C
MyVariant Identifiers: chr7:g.152346023G>C (hg19) chr7:g.152648938G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.152648938G>C , CM000669.2:g.152648938G>C GRCh38
NC_000007.13:g.152346023G>C , CM000669.1:g.152346023G>C GRCh37
NC_000007.12:g.151976956G>C NCBI36
NG_027988.1:g.32228C>G
NG_027988.2:g.32228C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000698506.1:c.379C>G ENSP00000513758.1:p.Leu127Val
ENST00000359321.2:c.547C>G MANE Select ENSP00000352271.1:p.Leu183Val
ENST00000359321.1:c.547C>G ENSP00000352271.1:p.Leu183Val
ENST00000495707.1:n.569C>G
NM_005431.1:c.547C>G NP_005422.1:p.Leu183Val
NM_005431.2:c.547C>G MANE Select NP_005422.1:p.Leu183Val
Search 100 bp 5'
Search 100 bp 3'