Canonical Allele Identifier: CA446363843

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131939620T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132603928T>G , CM000667.2:g.132603928T>G	GRCh38
NC_000005.9:g.131939620T>G , CM000667.1:g.131939620T>G	GRCh37
NC_000005.8:g.131967519T>G	NCBI36
NG_021151.1:g.52005T>G
NG_021151.2:g.51952T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2406T>G MANE Select	ENSP00000368100.4:p.Leu802=
ENST00000638452.2:c.2109T>G	ENSP00000492349.2:p.Leu703=
ENST00000638504.1:n.2014T>G
ENST00000638568.2:c.2109T>G	ENSP00000491158.2:p.Leu703=
ENST00000639899.1:n.2925T>G
ENST00000640655.2:c.2109T>G	ENSP00000491596.2:p.Leu703=
ENST00000651160.1:c.*550T>G	ENSP00000498829.1:n.*550T>G
ENST00000651658.1:n.2949T>G
ENST00000651723.1:c.*2489T>G	ENSP00000498237.1:n.*2489T>G
ENST00000652016.1:c.*623T>G	ENSP00000498267.1:n.*623T>G
ENST00000652485.1:c.2439T>G	ENSP00000498973.1:p.Leu813=
ENST00000378823.7:c.2406T>G	ENSP00000368100.4:p.Leu802=
ENST00000423956.5:c.*592T>G	ENSP00000390971.1:n.*592T>G
ENST00000533482.5:c.*2032T>G	ENSP00000431225.1:n.*2032T>G
NM_005732.3:c.2406T>G	NP_005723.2:p.Leu802=
NM_005732.4:c.2406T>G MANE Select	NP_005723.2:p.Leu802=