Canonical Allele Identifier: CA446495273

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1668598
• ClinVar RCV Id: RCV002194083
• dbSNP Id: rs2149849742
• MyVariant Identifiers: chr5:g.131944895T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609203T>C , CM000667.2:g.132609203T>C	GRCh38
NC_000005.9:g.131944895T>C , CM000667.1:g.131944895T>C	GRCh37
NC_000005.8:g.131972794T>C	NCBI36
NG_021151.1:g.57280T>C
NG_021151.2:g.57227T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2916T>C MANE Select	ENSP00000368100.4:p.Tyr972=
ENST00000638452.2:c.2619T>C	ENSP00000492349.2:p.Tyr873=
ENST00000638504.1:n.2524T>C
ENST00000638568.2:c.2619T>C	ENSP00000491158.2:p.Tyr873=
ENST00000639899.1:n.3435T>C
ENST00000640655.2:c.2619T>C	ENSP00000491596.2:p.Tyr873=
ENST00000651160.1:c.*1060T>C	ENSP00000498829.1:n.*1060T>C
ENST00000651723.1:c.*2999T>C	ENSP00000498237.1:n.*2999T>C
ENST00000378823.7:c.2916T>C	ENSP00000368100.4:p.Tyr972=
ENST00000423956.5:c.*1102T>C	ENSP00000390971.1:n.*1102T>C
ENST00000533482.5:c.*2542T>C	ENSP00000431225.1:n.*2542T>C
NM_005732.3:c.2916T>C	NP_005723.2:p.Tyr972=
NM_005732.4:c.2916T>C MANE Select	NP_005723.2:p.Tyr972=