Canonical Allele Identifier: CA3405474

Gene: RAD50

Linked Data

• ClinVar Variation Id: 457422
• ClinVar RCV Id: RCV000541526
• dbSNP Id: rs746546513
• ExAC: 5:131944865 G / A
• gnomAD v2: 5-131944865-G-A
• gnomAD v4: 5-132609173-G-A
• MyVariant Identifiers: chr5:g.131944865G>A (hg19) ; chr5:g.132609173G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609173G>A , CM000667.2:g.132609173G>A	GRCh38
NC_000005.9:g.131944865G>A , CM000667.1:g.131944865G>A	GRCh37
NC_000005.8:g.131972764G>A	NCBI36
NG_021151.1:g.57250G>A
NG_021151.2:g.57197G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2886G>A MANE Select	ENSP00000368100.4:p.Glu962=
ENST00000638452.2:c.2589G>A	ENSP00000492349.2:p.Glu863=
ENST00000638504.1:n.2494G>A
ENST00000638568.2:c.2589G>A	ENSP00000491158.2:p.Glu863=
ENST00000639899.1:n.3405G>A
ENST00000640655.2:c.2589G>A	ENSP00000491596.2:p.Glu863=
ENST00000651160.1:c.*1030G>A	ENSP00000498829.1:n.*1030G>A
ENST00000651723.1:c.*2969G>A	ENSP00000498237.1:n.*2969G>A
ENST00000378823.7:c.2886G>A	ENSP00000368100.4:p.Glu962=
ENST00000423956.5:c.*1072G>A	ENSP00000390971.1:n.*1072G>A
ENST00000533482.5:c.*2512G>A	ENSP00000431225.1:n.*2512G>A
NM_005732.3:c.2886G>A	NP_005723.2:p.Glu962=
NM_005732.4:c.2886G>A MANE Select	NP_005723.2:p.Glu962=