Canonical Allele Identifier: CA3405438

Gene: RAD50

Linked Data

• ClinVar Variation Id: 2125894
• ClinVar RCV Id: RCV003043850
• dbSNP Id: rs558302979
• ExAC: 5:131940624 G / T
• gnomAD v2: 5-131940624-G-T
• MyVariant Identifiers: chr5:g.131940624G>T (hg19) ; chr5:g.132604932G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604932G>T , CM000667.2:g.132604932G>T	GRCh38
NC_000005.9:g.131940624G>T , CM000667.1:g.131940624G>T	GRCh37
NC_000005.8:g.131968523G>T	NCBI36
NG_021151.1:g.53009G>T
NG_021151.2:g.52956G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2651G>T MANE Select	ENSP00000368100.4:p.Arg884Leu
ENST00000638452.2:c.2354G>T	ENSP00000492349.2:p.Arg785Leu
ENST00000638504.1:n.2259G>T
ENST00000638568.2:c.2354G>T	ENSP00000491158.2:p.Arg785Leu
ENST00000639899.1:n.3170G>T
ENST00000640655.2:c.2354G>T	ENSP00000491596.2:p.Arg785Leu
ENST00000651160.1:c.*795G>T	ENSP00000498829.1:n.*795G>T
ENST00000651723.1:c.*2734G>T	ENSP00000498237.1:n.*2734G>T
ENST00000652016.1:c.*868G>T	ENSP00000498267.1:n.*868G>T
ENST00000378823.7:c.2651G>T	ENSP00000368100.4:p.Arg884Leu
ENST00000423956.5:c.*837G>T	ENSP00000390971.1:n.*837G>T
ENST00000533482.5:c.*2277G>T	ENSP00000431225.1:n.*2277G>T
NM_005732.3:c.2651G>T	NP_005723.2:p.Arg884Leu
NM_005732.4:c.2651G>T MANE Select	NP_005723.2:p.Arg884Leu