Canonical Allele Identifier: CA446495302

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131944998A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609306A>G , CM000667.2:g.132609306A>G	GRCh38
NC_000005.9:g.131944998A>G , CM000667.1:g.131944998A>G	GRCh37
NC_000005.8:g.131972897A>G	NCBI36
NG_021151.1:g.57383A>G
NG_021151.2:g.57330A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2946A>G MANE Select	ENSP00000368100.4:p.Lys982=
ENST00000638452.2:c.2649A>G	ENSP00000492349.2:p.Lys883=
ENST00000638504.1:n.2554A>G
ENST00000638568.2:c.2649A>G	ENSP00000491158.2:p.Lys883=
ENST00000639899.1:n.3465A>G
ENST00000640655.2:c.2649A>G	ENSP00000491596.2:p.Lys883=
ENST00000651160.1:c.*1090A>G	ENSP00000498829.1:n.*1090A>G
ENST00000651723.1:c.*3029A>G	ENSP00000498237.1:n.*3029A>G
ENST00000378823.7:c.2946A>G	ENSP00000368100.4:p.Lys982=
ENST00000423956.5:c.*1132A>G	ENSP00000390971.1:n.*1132A>G
ENST00000533482.5:c.*2572A>G	ENSP00000431225.1:n.*2572A>G
NM_005732.3:c.2946A>G	NP_005723.2:p.Lys982=
NM_005732.4:c.2946A>G MANE Select	NP_005723.2:p.Lys982=