Canonical Allele Identifier: CA539548577

Gene: XRCC5

Linked Data

• dbSNP Id: rs1490950100
• gnomAD v2: 2-217070313-A-G
• gnomAD v3: 2-216205590-A-G
• gnomAD v4: 2-216205590-A-G
• MyVariant Identifiers: chr2:g.217070313A>G (hg19) ; chr2:g.216205590A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216205590A>G , CM000664.2:g.216205590A>G	GRCh38
NC_000002.11:g.217070313A>G , CM000664.1:g.217070313A>G	GRCh37
NC_000002.10:g.216778558A>G	NCBI36
NG_029780.1:g.101294A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392132.7:c.*388A>G MANE Select	ENSP00000375977.2:n.*388A>G
ENST00000392132.6:c.*388A>G	ENSP00000375977.2:n.*388A>G
ENST00000392133.7:c.*388A>G	ENSP00000375978.3:n.*388A>G
NM_021141.3:c.*388A>G	NP_066964.1:n.*388A>G
NM_021141.4:c.*388A>G MANE Select	NP_066964.1:n.*388A>G