Canonical Allele Identifier: CA230779

Gene: RAD52

Linked Data

• ClinVar Variation Id: 127049
• ClinVar RCV Id: RCV000114915
• dbSNP Id: rs104895062
• gnomAD v4: 12-913070-G-T
• MyVariant Identifiers: chr12:g.1022236G>T (hg19) ; chr12:g.913070G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.913070G>T , CM000674.2:g.913070G>T	GRCh38
NC_000012.11:g.1022236G>T , CM000674.1:g.1022236G>T	GRCh37
NC_000012.10:g.892497G>T	NCBI36
NG_007984.2:g.165012G>T
NG_017078.1:g.41628C>A
NG_007984.3:g.165012G>T
NG_017078.2:g.81972C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358495.8:c.*321C>A MANE Select	ENSP00000351284.3:n.*321C>A
ENST00000228345.9:n.1911C>A
ENST00000358495.7:c.*321C>A	ENSP00000351284.3:n.*321C>A
ENST00000430095.6:c.*321C>A	ENSP00000387901.2:n.*321C>A
ENST00000468231.5:c.*1364C>A	ENSP00000434703.1:n.*1364C>A
ENST00000481052.5:n.1889C>A
ENST00000488642.6:n.2101C>A
NM_001297419.1:c.*321C>A	NP_001284348.1:n.*321C>A
NM_001297421.1:c.*321C>A	NP_001284350.1:n.*321C>A
NM_134424.3:c.*321C>A	NP_602296.2:n.*321C>A
NR_123713.1:n.1999C>A
XM_005253720.3:c.*321C>A	XP_005253777.1:n.*321C>A
XM_005253721.2:c.*321C>A	XP_005253778.1:n.*321C>A
XM_011520990.1:c.*321C>A	XP_011519292.1:n.*321C>A
XM_011520991.1:c.*321C>A	XP_011519293.1:n.*321C>A
XM_011520992.1:c.*321C>A	XP_011519294.1:n.*321C>A
XM_011520995.1:c.*321C>A	XP_011519297.1:n.*321C>A
XR_931521.1:n.1665C>A
XR_931522.1:n.1740C>A
XM_005253720.5:c.*321C>A	XP_005253777.1:n.*321C>A
XM_011520990.2:c.*321C>A	XP_011519292.1:n.*321C>A
XM_011520991.2:c.*321C>A	XP_011519293.1:n.*321C>A
XM_011520995.3:c.*321C>A	XP_011519297.1:n.*321C>A
XM_017019769.1:c.*321C>A	XP_016875258.1:n.*321C>A
XM_017019770.1:c.*321C>A	XP_016875259.1:n.*321C>A
XR_001748836.1:n.1720C>A
XR_001748837.1:n.1717C>A
XR_001748838.2:n.1819C>A
XR_001748839.1:n.1717C>A
XR_931522.2:n.1740C>A
NM_134424.4:c.*321C>A MANE Select	NP_602296.2:n.*321C>A
NM_001297421.2:c.*321C>A	NP_001284350.1:n.*321C>A
NR_123713.2:n.1971C>A