Canonical Allele Identifier: CA3405290

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1783154
• ClinVar RCV Id: RCV002413281
• dbSNP Id: rs750512999
• ExAC: 5:131930714 T / C
• gnomAD v2: 5-131930714-T-C
• gnomAD v4: 5-132595022-T-C
• MyVariant Identifiers: chr5:g.131930714T>C (hg19) ; chr5:g.132595022T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132595022T>C , CM000667.2:g.132595022T>C	GRCh38
NC_000005.9:g.131930714T>C , CM000667.1:g.131930714T>C	GRCh37
NC_000005.8:g.131958613T>C	NCBI36
NG_021151.1:g.43099T>C
NG_021151.2:g.43046T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1947T>C MANE Select	ENSP00000368100.4:p.Ile649=
ENST00000638452.2:c.1650T>C	ENSP00000492349.2:p.Ile550=
ENST00000638504.1:n.1480-82T>C
ENST00000638568.2:c.1650T>C	ENSP00000491158.2:p.Ile550=
ENST00000639899.1:n.2466T>C
ENST00000640655.2:c.1650T>C	ENSP00000491596.2:p.Ile550=
ENST00000651160.1:c.*16-82T>C	ENSP00000498829.1:n.*16-82T>C
ENST00000651658.1:n.2490T>C
ENST00000651723.1:c.*2030T>C	ENSP00000498237.1:n.*2030T>C
ENST00000652016.1:c.*89-82T>C	ENSP00000498267.1:n.*89-82T>C
ENST00000652485.1:c.1980T>C	ENSP00000498973.1:p.Ile660=
ENST00000378823.7:c.1947T>C	ENSP00000368100.4:p.Ile649=
ENST00000423956.5:c.*133T>C	ENSP00000390971.1:n.*133T>C
ENST00000453394.5:c.1764T>C	ENSP00000400049.1:p.Ile588=
ENST00000533482.5:c.*1573T>C	ENSP00000431225.1:n.*1573T>C
NM_005732.3:c.1947T>C	NP_005723.2:p.Ile649=
NM_005732.4:c.1947T>C MANE Select	NP_005723.2:p.Ile649=