Canonical Allele Identifier: CA4582302
Gene: XRCC2 HGNC NCBI

Linked Data

dbSNP Id: rs750589771
ExAC: 7:152345826 T / G
gnomAD v2: 7-152345826-T-G
gnomAD v4: 7-152648741-T-G
MyVariant Identifiers: chr7:g.152345826T>G (hg19) chr7:g.152648741T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.152648741T>G , CM000669.2:g.152648741T>G GRCh38
NC_000007.13:g.152345826T>G , CM000669.1:g.152345826T>G GRCh37
NC_000007.12:g.151976759T>G NCBI36
NG_027988.1:g.32425A>C
NG_027988.2:g.32425A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000698506.1:c.576A>C ENSP00000513758.1:p.Gln192His
ENST00000359321.2:c.744A>C MANE Select ENSP00000352271.1:p.Gln248His
ENST00000359321.1:c.744A>C ENSP00000352271.1:p.Gln248His
ENST00000495707.1:n.766A>C
NM_005431.1:c.744A>C NP_005422.1:p.Gln248His
NM_005431.2:c.744A>C MANE Select NP_005422.1:p.Gln248His
Search 100 bp 5'
Search 100 bp 3'