Canonical Allele Identifier: CA360956842

Gene: RAD50

Linked Data

• ClinVar Variation Id: 2791188
• ClinVar RCV Id: RCV003746801
• dbSNP Id: rs1215003869
• gnomAD v2: 5-131940650-G-A
• gnomAD v4: 5-132604958-G-A
• MyVariant Identifiers: chr5:g.131940650G>A (hg19) ; chr5:g.132604958G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604958G>A , CM000667.2:g.132604958G>A	GRCh38
NC_000005.9:g.131940650G>A , CM000667.1:g.131940650G>A	GRCh37
NC_000005.8:g.131968549G>A	NCBI36
NG_021151.1:g.53035G>A
NG_021151.2:g.52982G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2677G>A MANE Select	ENSP00000368100.4:p.Glu893Lys
ENST00000638452.2:c.2380G>A	ENSP00000492349.2:p.Glu794Lys
ENST00000638504.1:n.2285G>A
ENST00000638568.2:c.2380G>A	ENSP00000491158.2:p.Glu794Lys
ENST00000639899.1:n.3196G>A
ENST00000640655.2:c.2380G>A	ENSP00000491596.2:p.Glu794Lys
ENST00000651160.1:c.*821G>A	ENSP00000498829.1:n.*821G>A
ENST00000651723.1:c.*2760G>A	ENSP00000498237.1:n.*2760G>A
ENST00000652016.1:c.*894G>A	ENSP00000498267.1:n.*894G>A
ENST00000378823.7:c.2677G>A	ENSP00000368100.4:p.Glu893Lys
ENST00000423956.5:c.*863G>A	ENSP00000390971.1:n.*863G>A
ENST00000533482.5:c.*2303G>A	ENSP00000431225.1:n.*2303G>A
NM_005732.3:c.2677G>A	NP_005723.2:p.Glu893Lys
NM_005732.4:c.2677G>A MANE Select	NP_005723.2:p.Glu893Lys