Canonical Allele Identifier: CA10582383

Gene: RAD50

Linked Data

• ClinVar Variation Id: 240226
• ClinVar RCV Id: RCV000225814
• dbSNP Id: rs878854791
• gnomAD v2: 5-131939722-G-A
• gnomAD v3: 5-132604030-G-A
• gnomAD v4: 5-132604030-G-A
• MyVariant Identifiers: chr5:g.131939722G>A (hg19) ; chr5:g.132604030G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604030G>A , CM000667.2:g.132604030G>A	GRCh38
NC_000005.9:g.131939722G>A , CM000667.1:g.131939722G>A	GRCh37
NC_000005.8:g.131967621G>A	NCBI36
NG_021151.1:g.52107G>A
NG_021151.2:g.52054G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2508G>A MANE Select	ENSP00000368100.4:p.Gln836=
ENST00000638452.2:c.2211G>A	ENSP00000492349.2:p.Gln737=
ENST00000638504.1:n.2116G>A
ENST00000638568.2:c.2211G>A	ENSP00000491158.2:p.Gln737=
ENST00000639899.1:n.3027G>A
ENST00000640655.2:c.2211G>A	ENSP00000491596.2:p.Gln737=
ENST00000651160.1:c.*652G>A	ENSP00000498829.1:n.*652G>A
ENST00000651658.1:n.3051G>A
ENST00000651723.1:c.*2591G>A	ENSP00000498237.1:n.*2591G>A
ENST00000652016.1:c.*725G>A	ENSP00000498267.1:n.*725G>A
ENST00000652485.1:c.2541G>A	ENSP00000498973.1:p.Gln847=
ENST00000378823.7:c.2508G>A	ENSP00000368100.4:p.Gln836=
ENST00000423956.5:c.*694G>A	ENSP00000390971.1:n.*694G>A
ENST00000533482.5:c.*2134G>A	ENSP00000431225.1:n.*2134G>A
NM_005732.3:c.2508G>A	NP_005723.2:p.Gln836=
NM_005732.4:c.2508G>A MANE Select	NP_005723.2:p.Gln836=