Canonical Allele Identifier: CA3405442

Gene: RAD50

Linked Data

• ClinVar Variation Id: 414966
• ClinVar RCV Id: RCV000461349 ; RCV000781781
• dbSNP Id: rs765764447
• ExAC: 5:131940701 T / G
• gnomAD v2: 5-131940701-T-G
• gnomAD v4: 5-132605009-T-G
• MyVariant Identifiers: chr5:g.131940701T>G (hg19) ; chr5:g.132605009T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132605009T>G , CM000667.2:g.132605009T>G	GRCh38
NC_000005.9:g.131940701T>G , CM000667.1:g.131940701T>G	GRCh37
NC_000005.8:g.131968600T>G	NCBI36
NG_021151.1:g.53086T>G
NG_021151.2:g.53033T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2718+10T>G MANE Select	ENSP00000368100.4:n.2718+10T>G
ENST00000638452.2:c.2421+10T>G	ENSP00000492349.2:n.2421+10T>G
ENST00000638504.1:n.2326+10T>G
ENST00000638568.2:c.2421+10T>G	ENSP00000491158.2:n.2421+10T>G
ENST00000639899.1:n.3237+10T>G
ENST00000640655.2:c.2421+10T>G	ENSP00000491596.2:n.2421+10T>G
ENST00000651160.1:c.*862+10T>G	ENSP00000498829.1:n.*862+10T>G
ENST00000651723.1:c.*2801+10T>G	ENSP00000498237.1:n.*2801+10T>G
ENST00000652016.1:c.*935+10T>G	ENSP00000498267.1:n.*935+10T>G
ENST00000378823.7:c.2718+10T>G	ENSP00000368100.4:n.2718+10T>G
ENST00000423956.5:c.*904+10T>G	ENSP00000390971.1:n.*904+10T>G
ENST00000533482.5:c.*2344+10T>G	ENSP00000431225.1:n.*2344+10T>G
NM_005732.3:c.2718+10T>G	NP_005723.2:n.2718+10T>G
NM_005732.4:c.2718+10T>G MANE Select	NP_005723.2:n.2718+10T>G