Canonical Allele Identifier: CA1117286849

Gene: RRM2B

Linked Data

• gnomAD v3: 8-102231892-AG-A
• gnomAD v4: 8-102231892-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.102231893del , CM000670.2:g.102231893del	GRCh38
NC_000008.10:g.103244121del , CM000670.1:g.103244121del	GRCh37
NC_000008.9:g.103313297del	NCBI36
NG_016617.1:g.12226del , LRG_788:g.12226del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251810.8:c.204+256del MANE Select	ENSP00000251810.3:n.204+256del
ENST00000251810.7:c.204+256del	ENSP00000251810.3:n.204+256del
ENST00000395912.6:c.49-5859del	ENSP00000379248.2:n.49-5859del
ENST00000517517.1:n.513+256del
ENST00000519317.5:c.48+6934del	ENSP00000430641.1:n.48+6934del
ENST00000519962.5:c.48+6934del	ENSP00000429140.1:n.48+6934del
ENST00000522368.5:c.373+256del
ENST00000522394.1:c.122+338del	ENSP00000429578.1:n.122+338del
ENST00000523957.1:c.*127+256del	ENSP00000427830.1:n.*127+256del
ENST00000621845.1:c.42+256del	ENSP00000484318.1:n.42+256del
NM_001172477.1:c.420+256del , LRG_788t1:c.420+256del	NP_001165948.1:n.420+256del
NM_001172478.1:c.49-5859del	NP_001165949.1:n.49-5859del
NM_015713.4:c.204+256del , LRG_788t2:c.204+256del	NP_056528.2:n.204+256del
NM_001172478.2:c.49-5859del	NP_001165949.1:n.49-5859del
NM_015713.5:c.204+256del MANE Select	NP_056528.2:n.204+256del