Canonical Allele Identifier: CA583912382

Gene: RRM2B

Linked Data

• dbSNP Id: rs1407218046
• gnomAD v2: 8-103244234-ATATT-A
• gnomAD v3: 8-102232006-ATATT-A
• gnomAD v4: 8-102232006-ATATT-A
• MyVariant Identifiers: chr8:g.103244235_103244238del (hg19) ; chr8:g.102232007_102232010del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.102232009_102232012del , CM000670.2:g.102232009_102232012del	GRCh38
NC_000008.10:g.103244237_103244240del , CM000670.1:g.103244237_103244240del	GRCh37
NC_000008.9:g.103313413_103313416del	NCBI36
NG_016617.1:g.12109_12112del , LRG_788:g.12109_12112del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251810.8:c.204+139_204+142del MANE Select	ENSP00000251810.3:n.204+139_204+142del
ENST00000251810.7:c.204+139_204+142del	ENSP00000251810.3:n.204+139_204+142del
ENST00000395912.6:c.49-5976_49-5973del	ENSP00000379248.2:n.49-5976_49-5973del
ENST00000517517.1:n.513+139_513+142del
ENST00000519317.5:c.48+6817_48+6820del	ENSP00000430641.1:n.48+6817_48+6820del
ENST00000519962.5:c.48+6817_48+6820del	ENSP00000429140.1:n.48+6817_48+6820del
ENST00000522368.5:c.373+139_373+142del
ENST00000522394.1:c.122+221_122+224del	ENSP00000429578.1:n.122+221_122+224del
ENST00000523957.1:c.*127+139_*127+142del	ENSP00000427830.1:n.*127+139_*127+142del
ENST00000621845.1:c.42+139_42+142del	ENSP00000484318.1:n.42+139_42+142del
NM_001172477.1:c.420+139_420+142del , LRG_788t1:c.420+139_420+142del	NP_001165948.1:n.420+139_420+142del
NM_001172478.1:c.49-5976_49-5973del	NP_001165949.1:n.49-5976_49-5973del
NM_015713.4:c.204+139_204+142del , LRG_788t2:c.204+139_204+142del	NP_056528.2:n.204+139_204+142del
NM_001172478.2:c.49-5976_49-5973del	NP_001165949.1:n.49-5976_49-5973del
NM_015713.5:c.204+139_204+142del MANE Select	NP_056528.2:n.204+139_204+142del