Canonical Allele Identifier: CA360956711

Gene: RAD50

Linked Data

• ClinVar Variation Id: 2118077
• ClinVar RCV Id: RCV003053534
• gnomAD v4: 5-132604926-A-G
• MyVariant Identifiers: chr5:g.131940618A>G (hg19) ; chr5:g.132604926A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604926A>G , CM000667.2:g.132604926A>G	GRCh38
NC_000005.9:g.131940618A>G , CM000667.1:g.131940618A>G	GRCh37
NC_000005.8:g.131968517A>G	NCBI36
NG_021151.1:g.53003A>G
NG_021151.2:g.52950A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2645A>G MANE Select	ENSP00000368100.4:p.Gln882Arg
ENST00000638452.2:c.2348A>G	ENSP00000492349.2:p.Gln783Arg
ENST00000638504.1:n.2253A>G
ENST00000638568.2:c.2348A>G	ENSP00000491158.2:p.Gln783Arg
ENST00000639899.1:n.3164A>G
ENST00000640655.2:c.2348A>G	ENSP00000491596.2:p.Gln783Arg
ENST00000651160.1:c.*789A>G	ENSP00000498829.1:n.*789A>G
ENST00000651723.1:c.*2728A>G	ENSP00000498237.1:n.*2728A>G
ENST00000652016.1:c.*862A>G	ENSP00000498267.1:n.*862A>G
ENST00000652485.1:c.2678A>G	ENSP00000498973.1:p.Gln893Arg
ENST00000378823.7:c.2645A>G	ENSP00000368100.4:p.Gln882Arg
ENST00000423956.5:c.*831A>G	ENSP00000390971.1:n.*831A>G
ENST00000533482.5:c.*2271A>G	ENSP00000431225.1:n.*2271A>G
NM_005732.3:c.2645A>G	NP_005723.2:p.Gln882Arg
NM_005732.4:c.2645A>G MANE Select	NP_005723.2:p.Gln882Arg