Canonical Allele Identifier: CA230773

Gene: RAD52

Linked Data

• ClinVar Variation Id: 127043
• ClinVar RCV Id: RCV000114909
• dbSNP Id: rs104895056
• gnomAD v2: 12-1022089-G-A
• gnomAD v3: 12-912923-G-A
• gnomAD v4: 12-912923-G-A
• MyVariant Identifiers: chr12:g.1022089G>A (hg19) ; chr12:g.912923G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.912923G>A , CM000674.2:g.912923G>A	GRCh38
NC_000012.11:g.1022089G>A , CM000674.1:g.1022089G>A	GRCh37
NC_000012.10:g.892350G>A	NCBI36
NG_007984.2:g.164865G>A
NG_017078.1:g.41775C>T
NG_007984.3:g.164865G>A
NG_017078.2:g.82119C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358495.8:c.*468C>T MANE Select	ENSP00000351284.3:n.*468C>T
ENST00000228345.9:n.2058C>T
ENST00000358495.7:c.*468C>T	ENSP00000351284.3:n.*468C>T
ENST00000430095.6:c.*468C>T	ENSP00000387901.2:n.*468C>T
ENST00000468231.5:c.*1511C>T	ENSP00000434703.1:n.*1511C>T
ENST00000481052.5:n.2036C>T
ENST00000488642.6:n.2248C>T
NM_001297419.1:c.*468C>T	NP_001284348.1:n.*468C>T
NM_001297421.1:c.*468C>T	NP_001284350.1:n.*468C>T
NM_134424.3:c.*468C>T	NP_602296.2:n.*468C>T
NR_123713.1:n.2146C>T
XM_005253720.3:c.*468C>T	XP_005253777.1:n.*468C>T
XM_005253721.2:c.*468C>T	XP_005253778.1:n.*468C>T
XM_011520990.1:c.*468C>T	XP_011519292.1:n.*468C>T
XM_011520991.1:c.*468C>T	XP_011519293.1:n.*468C>T
XM_011520992.1:c.*468C>T	XP_011519294.1:n.*468C>T
XM_011520995.1:c.*468C>T	XP_011519297.1:n.*468C>T
XR_931521.1:n.1812C>T
XR_931522.1:n.1887C>T
XM_005253720.5:c.*468C>T	XP_005253777.1:n.*468C>T
XM_011520990.2:c.*468C>T	XP_011519292.1:n.*468C>T
XM_011520991.2:c.*468C>T	XP_011519293.1:n.*468C>T
XM_011520995.3:c.*468C>T	XP_011519297.1:n.*468C>T
XM_017019769.1:c.*468C>T	XP_016875258.1:n.*468C>T
XM_017019770.1:c.*468C>T	XP_016875259.1:n.*468C>T
XR_001748836.1:n.1867C>T
XR_001748837.1:n.1864C>T
XR_001748838.2:n.1966C>T
XR_001748839.1:n.1864C>T
XR_931522.2:n.1887C>T
NM_134424.4:c.*468C>T MANE Select	NP_602296.2:n.*468C>T
NM_001297421.2:c.*468C>T	NP_001284350.1:n.*468C>T
NR_123713.2:n.2118C>T