Canonical Allele Identifier: CA2688147733

Gene: RRM2B

Linked Data

• gnomAD v4: 8-102232239-ACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.102232242_102232243del , CM000670.2:g.102232242_102232243del	GRCh38
NC_000008.10:g.103244470_103244471del , CM000670.1:g.103244470_103244471del	GRCh37
NC_000008.9:g.103313646_103313647del	NCBI36
NG_016617.1:g.11878_11879del , LRG_788:g.11878_11879del

Transcript Alleles

HGVS	Amino-acid change
ENST00000251810.8:c.112_113del MANE Select	ENSP00000251810.3:p.Ser38PhefsTer13
ENST00000251810.7:c.112_113del	ENSP00000251810.3:p.Ser38PhefsTer13
ENST00000395912.6:c.49-6207_49-6206del	ENSP00000379248.2:n.49-6207_49-6206del
ENST00000517517.1:n.421_422del
ENST00000519317.5:c.48+6586_48+6587del	ENSP00000430641.1:n.48+6586_48+6587del
ENST00000519962.5:c.48+6586_48+6587del	ENSP00000429140.1:n.48+6586_48+6587del
ENST00000522368.5:c.281_282del
ENST00000522394.1:c.112_113del	ENSP00000429578.1:p.Ser38PhefsTer?
ENST00000523957.1:c.*35_*36del	ENSP00000427830.1:n.*35_*36del
ENST00000621845.1:c.-51_-50del	ENSP00000484318.1:n.-51_-50del
NM_001172477.1:c.328_329del , LRG_788t1:c.328_329del	NP_001165948.1:p.Ser110PhefsTer13
NM_001172478.1:c.49-6207_49-6206del	NP_001165949.1:n.49-6207_49-6206del
NM_015713.4:c.112_113del , LRG_788t2:c.112_113del	NP_056528.2:p.Ser38PhefsTer13
NM_001172478.2:c.49-6207_49-6206del	NP_001165949.1:n.49-6207_49-6206del
NM_015713.5:c.112_113del MANE Select	NP_056528.2:p.Ser38PhefsTer13