Canonical Allele Identifier: CA1117286695

Gene: RRM2B

Linked Data

• dbSNP Id: rs1811034214
• gnomAD v3: 8-102231848-GAC-G
• gnomAD v4: 8-102231848-GAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.102231850_102231851del , CM000670.2:g.102231850_102231851del	GRCh38
NC_000008.10:g.103244078_103244079del , CM000670.1:g.103244078_103244079del	GRCh37
NC_000008.9:g.103313254_103313255del	NCBI36
NG_016617.1:g.12269_12270del , LRG_788:g.12269_12270del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251810.8:c.204+299_204+300del MANE Select	ENSP00000251810.3:n.204+299_204+300del
ENST00000251810.7:c.204+299_204+300del	ENSP00000251810.3:n.204+299_204+300del
ENST00000395912.6:c.49-5816_49-5815del	ENSP00000379248.2:n.49-5816_49-5815del
ENST00000517517.1:n.513+299_513+300del
ENST00000519317.5:c.48+6977_48+6978del	ENSP00000430641.1:n.48+6977_48+6978del
ENST00000519962.5:c.48+6977_48+6978del	ENSP00000429140.1:n.48+6977_48+6978del
ENST00000522368.5:c.373+299_373+300del
ENST00000522394.1:c.122+381_122+382del	ENSP00000429578.1:n.122+381_122+382del
ENST00000523957.1:c.*127+299_*127+300del	ENSP00000427830.1:n.*127+299_*127+300del
ENST00000621845.1:c.42+299_42+300del	ENSP00000484318.1:n.42+299_42+300del
NM_001172477.1:c.420+299_420+300del , LRG_788t1:c.420+299_420+300del	NP_001165948.1:n.420+299_420+300del
NM_001172478.1:c.49-5816_49-5815del	NP_001165949.1:n.49-5816_49-5815del
NM_015713.4:c.204+299_204+300del , LRG_788t2:c.204+299_204+300del	NP_056528.2:n.204+299_204+300del
NM_001172478.2:c.49-5816_49-5815del	NP_001165949.1:n.49-5816_49-5815del
NM_015713.5:c.204+299_204+300del MANE Select	NP_056528.2:n.204+299_204+300del