Canonical Allele Identifier: CA127237709

Gene: RAD50 TH2LCRR

Linked Data

• dbSNP Id: rs2240031
• gnomAD v2: 5-131977046-T-C
• gnomAD v3: 5-132641354-T-C
• gnomAD v4: 5-132641354-T-C
• MyVariant Identifiers: chr5:g.131977046T>C (hg19) ; chr5:g.132641354T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132641354T>C , CM000667.2:g.132641354T>C	GRCh38
NC_000005.9:g.131977046T>C , CM000667.1:g.131977046T>C	GRCh37
NC_000005.8:g.132004945T>C	NCBI36
NG_021151.1:g.89431T>C
NG_021151.2:g.89378T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3752+549T>C (RAD50) MANE Select	ENSP00000368100.4:n.3752+549T>C
ENST00000638452.2:c.3455+549T>C	ENSP00000492349.2:n.3455+549T>C
ENST00000638504.1:n.3360+549T>C
ENST00000638568.2:c.3455+549T>C	ENSP00000491158.2:n.3455+549T>C
ENST00000639899.1:n.4271+549T>C
ENST00000640655.2:c.3455+549T>C	ENSP00000491596.2:n.3455+549T>C
ENST00000651249.1:c.588+549T>C (RAD50)
ENST00000378823.7:c.3752+549T>C (RAD50)	ENSP00000368100.4:n.3752+549T>C
ENST00000455677.1:c.387+549T>C (RAD50)
ENST00000533482.5:c.*3378+549T>C (RAD50)	ENSP00000431225.1:n.*3378+549T>C
NM_005732.3:c.3752+549T>C (RAD50)	NP_005723.2:n.3752+549T>C
NR_132124.1:n.45+392A>G (TH2LCRR)
NR_132125.1:n.189+844A>G (TH2LCRR)
NR_132126.1:n.175-3089A>G (TH2LCRR)
XR_427771.1:n.426+392A>G (TH2LCRR)
NM_005732.4:c.3752+549T>C (RAD50) MANE Select	NP_005723.2:n.3752+549T>C