Canonical Allele Identifier: CA3405279

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1132379
• ClinVar RCV Id: RCV001466563
• dbSNP Id: rs746139845
• ExAC: 5:131930576 A / G
• gnomAD v2: 5-131930576-A-G
• MyVariant Identifiers: chr5:g.131930576A>G (hg19) ; chr5:g.132594884A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132594884A>G , CM000667.2:g.132594884A>G	GRCh38
NC_000005.9:g.131930576A>G , CM000667.1:g.131930576A>G	GRCh37
NC_000005.8:g.131958475A>G	NCBI36
NG_021151.1:g.42961A>G
NG_021151.2:g.42908A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1809A>G MANE Select	ENSP00000368100.4:p.Ser603=
ENST00000638452.2:c.1512A>G	ENSP00000492349.2:p.Ser504=
ENST00000638504.1:n.1480-220A>G
ENST00000638568.2:c.1512A>G	ENSP00000491158.2:p.Ser504=
ENST00000639899.1:n.2328A>G
ENST00000640655.2:c.1512A>G	ENSP00000491596.2:p.Ser504=
ENST00000651160.1:c.*16-220A>G	ENSP00000498829.1:n.*16-220A>G
ENST00000651658.1:n.2352A>G
ENST00000651723.1:c.*1892A>G	ENSP00000498237.1:n.*1892A>G
ENST00000652016.1:c.*88+207A>G	ENSP00000498267.1:n.*88+207A>G
ENST00000652485.1:c.1842A>G	ENSP00000498973.1:p.Ser614=
ENST00000378823.7:c.1809A>G	ENSP00000368100.4:p.Ser603=
ENST00000423956.5:c.1651A>G	ENSP00000390971.1:p.Ile551Val
ENST00000453394.5:c.1626A>G	ENSP00000400049.1:p.Ser542=
ENST00000533482.5:c.*1435A>G	ENSP00000431225.1:n.*1435A>G
NM_005732.3:c.1809A>G	NP_005723.2:p.Ser603=
NM_005732.4:c.1809A>G MANE Select	NP_005723.2:p.Ser603=