Canonical Allele Identifier: CA198118

Gene: RAD50

Linked Data

• ClinVar Variation Id: 187622
• ClinVar RCV Id: RCV000167368 ; RCV001030506 ; RCV000764585 ; RCV001194195
• dbSNP Id: rs549559726
• ExAC: 5:131938993 C / G
• gnomAD v2: 5-131938993-C-G
• gnomAD v3: 5-132603301-C-G
• gnomAD v4: 5-132603301-C-G
• MyVariant Identifiers: chr5:g.131938993C>G (hg19) ; chr5:g.132603301C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132603301C>G , CM000667.2:g.132603301C>G	GRCh38
NC_000005.9:g.131938993C>G , CM000667.1:g.131938993C>G	GRCh37
NC_000005.8:g.131966892C>G	NCBI36
NG_021151.1:g.51378C>G
NG_021151.2:g.51325C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2209C>G MANE Select	ENSP00000368100.4:p.Gln737Glu
ENST00000638452.2:c.1912C>G	ENSP00000492349.2:p.Gln638Glu
ENST00000638504.1:n.1817C>G
ENST00000638568.2:c.1912C>G	ENSP00000491158.2:p.Gln638Glu
ENST00000639899.1:n.2728C>G
ENST00000640655.2:c.1912C>G	ENSP00000491596.2:p.Gln638Glu
ENST00000651160.1:c.*353C>G	ENSP00000498829.1:n.*353C>G
ENST00000651658.1:n.2752C>G
ENST00000651723.1:c.*2292C>G	ENSP00000498237.1:n.*2292C>G
ENST00000652016.1:c.*426C>G	ENSP00000498267.1:n.*426C>G
ENST00000652485.1:c.2242C>G	ENSP00000498973.1:p.Gln748Glu
ENST00000378823.7:c.2209C>G	ENSP00000368100.4:p.Gln737Glu
ENST00000423956.5:c.*395C>G	ENSP00000390971.1:n.*395C>G
ENST00000496204.1:n.369C>G
ENST00000533482.5:c.*1835C>G	ENSP00000431225.1:n.*1835C>G
NM_005732.3:c.2209C>G	NP_005723.2:p.Gln737Glu
NM_005732.4:c.2209C>G MANE Select	NP_005723.2:p.Gln737Glu