Canonical Allele Identifier: CA360956598

Gene: RAD50

Linked Data

• ClinVar Variation Id: 2451413
• ClinVar RCV Id: RCV003182429
• MyVariant Identifiers: chr5:g.131940593A>G (hg19) ; chr5:g.132604901A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604901A>G , CM000667.2:g.132604901A>G	GRCh38
NC_000005.9:g.131940593A>G , CM000667.1:g.131940593A>G	GRCh37
NC_000005.8:g.131968492A>G	NCBI36
NG_021151.1:g.52978A>G
NG_021151.2:g.52925A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2620A>G MANE Select	ENSP00000368100.4:p.Lys874Glu
ENST00000638452.2:c.2323A>G	ENSP00000492349.2:p.Lys775Glu
ENST00000638504.1:n.2228A>G
ENST00000638568.2:c.2323A>G	ENSP00000491158.2:p.Lys775Glu
ENST00000639899.1:n.3139A>G
ENST00000640655.2:c.2323A>G	ENSP00000491596.2:p.Lys775Glu
ENST00000651160.1:c.*764A>G	ENSP00000498829.1:n.*764A>G
ENST00000651723.1:c.*2703A>G	ENSP00000498237.1:n.*2703A>G
ENST00000652016.1:c.*837A>G	ENSP00000498267.1:n.*837A>G
ENST00000652485.1:c.2653A>G	ENSP00000498973.1:p.Lys885Glu
ENST00000378823.7:c.2620A>G	ENSP00000368100.4:p.Lys874Glu
ENST00000423956.5:c.*806A>G	ENSP00000390971.1:n.*806A>G
ENST00000533482.5:c.*2246A>G	ENSP00000431225.1:n.*2246A>G
NM_005732.3:c.2620A>G	NP_005723.2:p.Lys874Glu
NM_005732.4:c.2620A>G MANE Select	NP_005723.2:p.Lys874Glu