Canonical Allele Identifier: CA127258075

Gene: RAD50

Linked Data

• ClinVar Variation Id: 480440
• ClinVar RCV Id: RCV000565675
• dbSNP Id: rs996373843
• gnomAD v2: 5-131939719-A-G
• gnomAD v4: 5-132604027-A-G
• MyVariant Identifiers: chr5:g.131939719A>G (hg19) ; chr5:g.132604027A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604027A>G , CM000667.2:g.132604027A>G	GRCh38
NC_000005.9:g.131939719A>G , CM000667.1:g.131939719A>G	GRCh37
NC_000005.8:g.131967618A>G	NCBI36
NG_021151.1:g.52104A>G
NG_021151.2:g.52051A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2505A>G MANE Select	ENSP00000368100.4:p.Lys835=
ENST00000638452.2:c.2208A>G	ENSP00000492349.2:p.Lys736=
ENST00000638504.1:n.2113A>G
ENST00000638568.2:c.2208A>G	ENSP00000491158.2:p.Lys736=
ENST00000639899.1:n.3024A>G
ENST00000640655.2:c.2208A>G	ENSP00000491596.2:p.Lys736=
ENST00000651160.1:c.*649A>G	ENSP00000498829.1:n.*649A>G
ENST00000651658.1:n.3048A>G
ENST00000651723.1:c.*2588A>G	ENSP00000498237.1:n.*2588A>G
ENST00000652016.1:c.*722A>G	ENSP00000498267.1:n.*722A>G
ENST00000652485.1:c.2538A>G	ENSP00000498973.1:p.Lys846=
ENST00000378823.7:c.2505A>G	ENSP00000368100.4:p.Lys835=
ENST00000423956.5:c.*691A>G	ENSP00000390971.1:n.*691A>G
ENST00000533482.5:c.*2131A>G	ENSP00000431225.1:n.*2131A>G
NM_005732.3:c.2505A>G	NP_005723.2:p.Lys835=
NM_005732.4:c.2505A>G MANE Select	NP_005723.2:p.Lys835=