Canonical Allele Identifier: CA360935450

Gene: RAD50 TH2LCRR

Linked Data

• ClinVar Variation Id: 2678147
• ClinVar RCV Id: RCV003463429
• MyVariant Identifiers: chr5:g.131977868A>G (hg19) ; chr5:g.132642176A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132642176A>G , CM000667.2:g.132642176A>G	GRCh38
NC_000005.9:g.131977868A>G , CM000667.1:g.131977868A>G	GRCh37
NC_000005.8:g.132005767A>G	NCBI36
NG_021151.1:g.90253A>G
NG_021151.2:g.90200A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3753-2A>G (RAD50) MANE Select	ENSP00000368100.4:n.3753-2A>G
ENST00000638452.2:c.3456-2A>G	ENSP00000492349.2:n.3456-2A>G
ENST00000638504.1:n.3361-2A>G
ENST00000638568.2:c.3456-2A>G	ENSP00000491158.2:n.3456-2A>G
ENST00000639899.1:n.4272-2A>G
ENST00000640655.2:c.3456-2A>G	ENSP00000491596.2:n.3456-2A>G
ENST00000651249.1:c.589-2A>G (RAD50)
ENST00000378823.7:c.3753-2A>G (RAD50)	ENSP00000368100.4:n.3753-2A>G
ENST00000455677.1:c.388-829A>G (RAD50)
ENST00000533482.5:c.*3379-2A>G (RAD50)	ENSP00000431225.1:n.*3379-2A>G
NM_005732.3:c.3753-2A>G (RAD50)	NP_005723.2:n.3753-2A>G
NR_132125.1:n.189+22T>C (TH2LCRR)
NR_132126.1:n.175-3911T>C (TH2LCRR)
NM_005732.4:c.3753-2A>G (RAD50) MANE Select	NP_005723.2:n.3753-2A>G