Canonical Allele Identifier: CA446364155

Gene: RAD50

Linked Data

• ClinVar Variation Id: 2586256
• ClinVar RCV Id: RCV003341715
• MyVariant Identifiers: chr5:g.131940658C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604966C>T , CM000667.2:g.132604966C>T	GRCh38
NC_000005.9:g.131940658C>T , CM000667.1:g.131940658C>T	GRCh37
NC_000005.8:g.131968557C>T	NCBI36
NG_021151.1:g.53043C>T
NG_021151.2:g.52990C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2685C>T MANE Select	ENSP00000368100.4:p.Ser895=
ENST00000638452.2:c.2388C>T	ENSP00000492349.2:p.Ser796=
ENST00000638504.1:n.2293C>T
ENST00000638568.2:c.2388C>T	ENSP00000491158.2:p.Ser796=
ENST00000639899.1:n.3204C>T
ENST00000640655.2:c.2388C>T	ENSP00000491596.2:p.Ser796=
ENST00000651160.1:c.*829C>T	ENSP00000498829.1:n.*829C>T
ENST00000651723.1:c.*2768C>T	ENSP00000498237.1:n.*2768C>T
ENST00000652016.1:c.*902C>T	ENSP00000498267.1:n.*902C>T
ENST00000378823.7:c.2685C>T	ENSP00000368100.4:p.Ser895=
ENST00000423956.5:c.*871C>T	ENSP00000390971.1:n.*871C>T
ENST00000533482.5:c.*2311C>T	ENSP00000431225.1:n.*2311C>T
NM_005732.3:c.2685C>T	NP_005723.2:p.Ser895=
NM_005732.4:c.2685C>T MANE Select	NP_005723.2:p.Ser895=