Canonical Allele Identifier: CA2580078498

Gene: RRM2B

Linked Data

• ClinVar Variation Id: 2072548
• ClinVar RCV Id: RCV002949591

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.102208251del , CM000670.2:g.102208251del	GRCh38
NC_000008.10:g.103220479del , CM000670.1:g.103220479del	GRCh37
NC_000008.9:g.103289655del	NCBI36
NG_016617.1:g.35871del , LRG_788:g.35871del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251810.8:c.941del MANE Select	ENSP00000251810.3:p.Asn314ThrfsTer4
ENST00000251810.7:c.941del	ENSP00000251810.3:p.Asn314ThrfsTer4
ENST00000395910.6:n.328del
ENST00000395912.6:c.785del	ENSP00000379248.2:p.Asn262ThrfsTer4
ENST00000519317.5:c.305del	ENSP00000430641.1:p.Asn102ThrfsTer4
ENST00000519962.5:c.86del	ENSP00000429140.1:p.Asn29ThrfsTer4
ENST00000522368.5:c.1110del
ENST00000522394.1:c.274del	ENSP00000429578.1:n.274del
ENST00000621845.1:c.779del	ENSP00000484318.1:p.Asn260ThrfsTer4
NM_001172477.1:c.1157del , LRG_788t1:c.1157del	NP_001165948.1:p.Asn386ThrfsTer4
NM_001172478.1:c.785del	NP_001165949.1:p.Asn262ThrfsTer4
NM_015713.4:c.941del , LRG_788t2:c.941del	NP_056528.2:p.Asn314ThrfsTer4
NM_001172478.2:c.785del	NP_001165949.1:p.Asn262ThrfsTer4
NM_015713.5:c.941del MANE Select	NP_056528.2:p.Asn314ThrfsTer4