Canonical Allele Identifier: CA360948428

Gene: RAD50

Linked Data

• ClinVar Variation Id: 2963206
• ClinVar RCV Id: RCV003822860
• MyVariant Identifiers: chr5:g.131930706G>A (hg19) ; chr5:g.132595014G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132595014G>A , CM000667.2:g.132595014G>A	GRCh38
NC_000005.9:g.131930706G>A , CM000667.1:g.131930706G>A	GRCh37
NC_000005.8:g.131958605G>A	NCBI36
NG_021151.1:g.43091G>A
NG_021151.2:g.43038G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1939G>A MANE Select	ENSP00000368100.4:p.Glu647Lys
ENST00000638452.2:c.1642G>A	ENSP00000492349.2:p.Glu548Lys
ENST00000638504.1:n.1480-90G>A
ENST00000638568.2:c.1642G>A	ENSP00000491158.2:p.Glu548Lys
ENST00000639899.1:n.2458G>A
ENST00000640655.2:c.1642G>A	ENSP00000491596.2:p.Glu548Lys
ENST00000651160.1:c.*16-90G>A	ENSP00000498829.1:n.*16-90G>A
ENST00000651658.1:n.2482G>A
ENST00000651723.1:c.*2022G>A	ENSP00000498237.1:n.*2022G>A
ENST00000652016.1:c.*89-90G>A	ENSP00000498267.1:n.*89-90G>A
ENST00000652485.1:c.1972G>A	ENSP00000498973.1:p.Glu658Lys
ENST00000378823.7:c.1939G>A	ENSP00000368100.4:p.Glu647Lys
ENST00000423956.5:c.*125G>A	ENSP00000390971.1:n.*125G>A
ENST00000453394.5:c.1756G>A	ENSP00000400049.1:p.Glu586Lys
ENST00000533482.5:c.*1565G>A	ENSP00000431225.1:n.*1565G>A
NM_005732.3:c.1939G>A	NP_005723.2:p.Glu647Lys
NM_005732.4:c.1939G>A MANE Select	NP_005723.2:p.Glu647Lys