Canonical Allele Identifier: CA193914

Gene: RAD50

Linked Data

• ClinVar Variation Id: 186121
• ClinVar RCV Id: RCV000165655
• dbSNP Id: rs786202709
• gnomAD v2: 5-131940569-A-G
• gnomAD v3: 5-132604877-A-G
• gnomAD v4: 5-132604877-A-G
• MyVariant Identifiers: chr5:g.131940569A>G (hg19) ; chr5:g.132604877A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604877A>G , CM000667.2:g.132604877A>G	GRCh38
NC_000005.9:g.131940569A>G , CM000667.1:g.131940569A>G	GRCh37
NC_000005.8:g.131968468A>G	NCBI36
NG_021151.1:g.52954A>G
NG_021151.2:g.52901A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2596A>G MANE Select	ENSP00000368100.4:p.Thr866Ala
ENST00000638452.2:c.2299A>G	ENSP00000492349.2:p.Thr767Ala
ENST00000638504.1:n.2204A>G
ENST00000638568.2:c.2299A>G	ENSP00000491158.2:p.Thr767Ala
ENST00000639899.1:n.3115A>G
ENST00000640655.2:c.2299A>G	ENSP00000491596.2:p.Thr767Ala
ENST00000651160.1:c.*740A>G	ENSP00000498829.1:n.*740A>G
ENST00000651723.1:c.*2679A>G	ENSP00000498237.1:n.*2679A>G
ENST00000652016.1:c.*813A>G	ENSP00000498267.1:n.*813A>G
ENST00000652485.1:c.2629A>G	ENSP00000498973.1:p.Thr877Ala
ENST00000378823.7:c.2596A>G	ENSP00000368100.4:p.Thr866Ala
ENST00000423956.5:c.*782A>G	ENSP00000390971.1:n.*782A>G
ENST00000533482.5:c.*2222A>G	ENSP00000431225.1:n.*2222A>G
NM_005732.3:c.2596A>G	NP_005723.2:p.Thr866Ala
NM_005732.4:c.2596A>G MANE Select	NP_005723.2:p.Thr866Ala