Canonical Allele Identifier: CA2688147417

Gene: RRM2B

Linked Data

• gnomAD v4: 8-102232005-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.102232006del , CM000670.2:g.102232006del	GRCh38
NC_000008.10:g.103244234del , CM000670.1:g.103244234del	GRCh37
NC_000008.9:g.103313410del	NCBI36
NG_016617.1:g.12113del , LRG_788:g.12113del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251810.8:c.204+143del MANE Select	ENSP00000251810.3:n.204+143del
ENST00000251810.7:c.204+143del	ENSP00000251810.3:n.204+143del
ENST00000395912.6:c.49-5972del	ENSP00000379248.2:n.49-5972del
ENST00000517517.1:n.513+143del
ENST00000519317.5:c.48+6821del	ENSP00000430641.1:n.48+6821del
ENST00000519962.5:c.48+6821del	ENSP00000429140.1:n.48+6821del
ENST00000522368.5:c.373+143del
ENST00000522394.1:c.122+225del	ENSP00000429578.1:n.122+225del
ENST00000523957.1:c.*127+143del	ENSP00000427830.1:n.*127+143del
ENST00000621845.1:c.42+143del	ENSP00000484318.1:n.42+143del
NM_001172477.1:c.420+143del , LRG_788t1:c.420+143del	NP_001165948.1:n.420+143del
NM_001172478.1:c.49-5972del	NP_001165949.1:n.49-5972del
NM_015713.4:c.204+143del , LRG_788t2:c.204+143del	NP_056528.2:n.204+143del
NM_001172478.2:c.49-5972del	NP_001165949.1:n.49-5972del
NM_015713.5:c.204+143del MANE Select	NP_056528.2:n.204+143del