Canonical Allele Identifier: CA764677214
Gene: XRCC5 HGNC NCBI

Linked Data

dbSNP Id: rs1242154151
gnomAD v3: 2-216205572-T-G
gnomAD v4: 2-216205572-T-G
MyVariant Identifiers: chr2:g.217070295T>G (hg19) chr2:g.216205572T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216205572T>G , CM000664.2:g.216205572T>G GRCh38
NC_000002.11:g.217070295T>G , CM000664.1:g.217070295T>G GRCh37
NC_000002.10:g.216778540T>G NCBI36
NG_029780.1:g.101276T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000392132.7:c.*370T>G MANE Select ENSP00000375977.2:n.*370T>G
ENST00000392132.6:c.*370T>G ENSP00000375977.2:n.*370T>G
ENST00000392133.7:c.*370T>G ENSP00000375978.3:n.*370T>G
NM_021141.3:c.*370T>G NP_066964.1:n.*370T>G
NM_021141.4:c.*370T>G MANE Select NP_066964.1:n.*370T>G
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