Canonical Allele Identifier: CA13576319
Gene: RAD52 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.912349T>G
GRCh37 chr12:g.1021515T>G
gnomAD v2:
12:1021515 T / G
gnomAD v3:
12:912349 T / G
gnomAD v4:
chr12-912349-T-G
Joint Max Group AF 0.19745372 (MID)
Genomes Max Group AF 0.16953904 (EAS)
Exomes Max Group AF 0.18914206 (MID)
dbSNP:
7963551
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.912349T>G , CM000674.2:g.912349T>G GRCh38
NC_000012.11:g.1021515T>G , CM000674.1:g.1021515T>G GRCh37
NC_000012.10:g.891776T>G NCBI36
NG_007984.2:g.164291T>G
NG_017078.1:g.42349A>C
NG_007984.3:g.164291T>G
NG_017078.2:g.82693A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000358495.8:c.*1042A>C MANE Select ENSP00000351284.3:n.*1042A>C
ENST00000228345.9:n.2632A>C
ENST00000358495.7:c.*1042A>C ENSP00000351284.3:n.*1042A>C
NM_001297419.1:c.*1042A>C NP_001284348.1:n.*1042A>C
NM_001297421.1:c.*1042A>C NP_001284350.1:n.*1042A>C
NM_134424.3:c.*1042A>C NP_602296.2:n.*1042A>C
NR_123713.1:n.2720A>C
XM_005253720.3:c.*1042A>C XP_005253777.1:n.*1042A>C
XM_005253721.2:c.*1042A>C XP_005253778.1:n.*1042A>C
XM_011520990.1:c.*1042A>C XP_011519292.1:n.*1042A>C
XM_011520991.1:c.*1042A>C XP_011519293.1:n.*1042A>C
XM_011520992.1:c.*1042A>C XP_011519294.1:n.*1042A>C
XM_011520995.1:c.*1042A>C XP_011519297.1:n.*1042A>C
XR_931521.1:n.2386A>C
XR_931522.1:n.2461A>C
XM_005253720.5:c.*1042A>C XP_005253777.1:n.*1042A>C
XM_011520990.2:c.*1042A>C XP_011519292.1:n.*1042A>C
XM_011520991.2:c.*1042A>C XP_011519293.1:n.*1042A>C
XM_011520995.3:c.*1042A>C XP_011519297.1:n.*1042A>C
XM_017019769.1:c.*1042A>C XP_016875258.1:n.*1042A>C
XM_017019770.1:c.*1042A>C XP_016875259.1:n.*1042A>C
XR_001748836.1:n.2441A>C
XR_001748837.1:n.2438A>C
XR_001748838.2:n.2540A>C
XR_001748839.1:n.2438A>C
XR_931522.2:n.2461A>C
NM_134424.4:c.*1042A>C MANE Select NP_602296.2:n.*1042A>C
NM_001297421.2:c.*1042A>C NP_001284350.1:n.*1042A>C
NR_123713.2:n.2692A>C
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