Canonical Allele Identifier: CA2688143449

Gene: RRM2B

Linked Data

• gnomAD v4: 8-102208254-A-AGGGAGGAGCCAAGATGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCG

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.102208254_102208255insGGGAGGAGCCAAGATGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCG , CM000670.2:g.102208254_102208255insGGGAGGAGCCAAGATGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCG	GRCh38
NC_000008.10:g.103220482_103220483insGGGAGGAGCCAAGATGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCG , CM000670.1:g.103220482_103220483insGGGAGGAGCCAAGATGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCG	GRCh37
NC_000008.9:g.103289658_103289659insGGGAGGAGCCAAGATGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCG	NCBI36
NG_016617.1:g.35864_35865insCGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCC , LRG_788:g.35864_35865insCGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251810.8:c.934_935insCGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCC MANE Select	ENSP00000251810.3:p.Met312ThrfsTer24
ENST00000251810.7:c.934_935insCGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCC	ENSP00000251810.3:p.Met312ThrfsTer24
ENST00000395910.6:n.321_322insCGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCC
ENST00000395912.6:c.778_779insCGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCC	ENSP00000379248.2:p.Met260ThrfsTer24
ENST00000519317.5:c.298_299insCGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCC	ENSP00000430641.1:p.Met100ThrfsTer24
ENST00000519962.5:c.79_80insCGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCC	ENSP00000429140.1:p.Met27ThrfsTer24
ENST00000522368.5:c.1103_1104insCGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCC
ENST00000522394.1:c.267_268insCGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCC	ENSP00000429578.1:n.267_268insCGCTGGGAGCTGTAGACCGGAGCTGTTCCTA...
ENST00000621845.1:c.772_773insCGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCC	ENSP00000484318.1:p.Met258ThrfsTer24
NM_001172477.1:c.1150_1151insCGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCC , LRG_788t1:c.1150_1151insCGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCC	NP_001165948.1:p.Met384ThrfsTer24
NM_001172478.1:c.778_779insCGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCC	NP_001165949.1:p.Met260ThrfsTer24
NM_015713.4:c.934_935insCGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCC , LRG_788t2:c.934_935insCGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCC	NP_056528.2:p.Met312ThrfsTer24
NM_001172478.2:c.778_779insCGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCC	NP_001165949.1:p.Met260ThrfsTer24
NM_015713.5:c.934_935insCGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCC MANE Select	NP_056528.2:p.Met312ThrfsTer24