Canonical Allele Identifier: CA127232359

Gene: RAD50 TH2LCRR

Linked Data

• dbSNP Id: rs780234595
• gnomAD v2: 5-131969559-T-G
• gnomAD v3: 5-132633867-T-G
• gnomAD v4: 5-132633867-T-G
• MyVariant Identifiers: chr5:g.131969559T>G (hg19) ; chr5:g.132633867T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132633867T>G , CM000667.2:g.132633867T>G	GRCh38
NC_000005.9:g.131969559T>G , CM000667.1:g.131969559T>G	GRCh37
NC_000005.8:g.131997458T>G	NCBI36
NG_021151.1:g.81944T>G
NG_021151.2:g.81891T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3390-3248T>G (RAD50) MANE Select	ENSP00000368100.4:n.3390-3248T>G
ENST00000638452.2:c.3093-3248T>G	ENSP00000492349.2:n.3093-3248T>G
ENST00000638504.1:n.2998-3248T>G
ENST00000638568.2:c.3093-3248T>G	ENSP00000491158.2:n.3093-3248T>G
ENST00000639899.1:n.3909-3248T>G
ENST00000640655.2:c.3093-3248T>G	ENSP00000491596.2:n.3093-3248T>G
ENST00000651249.1:c.226-3248T>G (RAD50)
ENST00000378823.7:c.3390-3248T>G (RAD50)	ENSP00000368100.4:n.3390-3248T>G
ENST00000455677.1:c.25-3248T>G (RAD50)
ENST00000533482.5:c.*3016-3248T>G (RAD50)	ENSP00000431225.1:n.*3016-3248T>G
NM_005732.3:c.3390-3248T>G (RAD50)	NP_005723.2:n.3390-3248T>G
NR_132124.1:n.154-2976A>C (TH2LCRR)
NM_005732.4:c.3390-3248T>G (RAD50) MANE Select	NP_005723.2:n.3390-3248T>G