Canonical Allele Identifier: CA446362013

Gene: RAD50

Linked Data

• ClinVar Variation Id: 2048280
• ClinVar RCV Id: RCV002927078
• MyVariant Identifiers: chr5:g.131930609A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132594917A>G , CM000667.2:g.132594917A>G	GRCh38
NC_000005.9:g.131930609A>G , CM000667.1:g.131930609A>G	GRCh37
NC_000005.8:g.131958508A>G	NCBI36
NG_021151.1:g.42994A>G
NG_021151.2:g.42941A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1842A>G MANE Select	ENSP00000368100.4:p.Glu614=
ENST00000638452.2:c.1545A>G	ENSP00000492349.2:p.Glu515=
ENST00000638504.1:n.1480-187A>G
ENST00000638568.2:c.1545A>G	ENSP00000491158.2:p.Glu515=
ENST00000639899.1:n.2361A>G
ENST00000640655.2:c.1545A>G	ENSP00000491596.2:p.Glu515=
ENST00000651160.1:c.*16-187A>G	ENSP00000498829.1:n.*16-187A>G
ENST00000651658.1:n.2385A>G
ENST00000651723.1:c.*1925A>G	ENSP00000498237.1:n.*1925A>G
ENST00000652016.1:c.*89-187A>G	ENSP00000498267.1:n.*89-187A>G
ENST00000652485.1:c.1875A>G	ENSP00000498973.1:p.Glu625=
ENST00000378823.7:c.1842A>G	ENSP00000368100.4:p.Glu614=
ENST00000423956.5:c.*28A>G	ENSP00000390971.1:n.*28A>G
ENST00000453394.5:c.1659A>G	ENSP00000400049.1:p.Glu553=
ENST00000533482.5:c.*1468A>G	ENSP00000431225.1:n.*1468A>G
NM_005732.3:c.1842A>G	NP_005723.2:p.Glu614=
NM_005732.4:c.1842A>G MANE Select	NP_005723.2:p.Glu614=