Canonical Allele Identifier: CA446356626

Gene: RAD50

Linked Data

• ClinVar Variation Id: 765558
• ClinVar RCV Id: RCV001025366
• dbSNP Id: rs1251074439
• gnomAD v2: 5-131915653-G-A
• gnomAD v4: 5-132579961-G-A
• MyVariant Identifiers: chr5:g.131915653G>A (hg19) ; chr5:g.132579961G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132579961G>A , CM000667.2:g.132579961G>A	GRCh38
NC_000005.9:g.131915653G>A , CM000667.1:g.131915653G>A	GRCh37
NC_000005.8:g.131943552G>A	NCBI36
NG_021151.1:g.28038G>A
NG_021151.2:g.27985G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.651G>A MANE Select	ENSP00000368100.4:p.Lys217=
ENST00000638452.2:c.354G>A	ENSP00000492349.2:p.Lys118=
ENST00000638504.1:n.442+4033G>A
ENST00000638568.2:c.354G>A	ENSP00000491158.2:p.Lys118=
ENST00000639899.1:n.1170G>A
ENST00000640655.2:c.354G>A	ENSP00000491596.2:p.Lys118=
ENST00000651160.1:c.651G>A	ENSP00000498829.1:p.Lys217=
ENST00000651541.1:c.354G>A	ENSP00000498795.1:p.Lys118=
ENST00000651658.1:n.1078G>A
ENST00000651723.1:c.*734G>A	ENSP00000498237.1:n.*734G>A
ENST00000652016.1:c.651G>A	ENSP00000498267.1:p.Lys217=
ENST00000652485.1:c.651G>A	ENSP00000498973.1:p.Lys217=
ENST00000378823.7:c.651G>A	ENSP00000368100.4:p.Lys217=
ENST00000423956.5:c.651G>A	ENSP00000390971.1:p.Lys217=
ENST00000453394.5:c.651G>A	ENSP00000400049.1:p.Lys217=
ENST00000487596.1:n.217G>A
ENST00000533482.5:c.*277G>A	ENSP00000431225.1:n.*277G>A
NM_005732.3:c.651G>A	NP_005723.2:p.Lys217=
NM_005732.4:c.651G>A MANE Select	NP_005723.2:p.Lys217=