Canonical Allele Identifier: CA844774604

Gene: RRM2B

Linked Data

• dbSNP Id: rs1271591458
• gnomAD v3: 8-102231859-AC-A
• gnomAD v4: 8-102231859-AC-A
• MyVariant Identifiers: chr8:g.103244088del (hg19) ; chr8:g.102231860del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.102231860del , CM000670.2:g.102231860del	GRCh38
NC_000008.10:g.103244088del , CM000670.1:g.103244088del	GRCh37
NC_000008.9:g.103313264del	NCBI36
NG_016617.1:g.12259del , LRG_788:g.12259del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251810.8:c.204+289del MANE Select	ENSP00000251810.3:n.204+289del
ENST00000251810.7:c.204+289del	ENSP00000251810.3:n.204+289del
ENST00000395912.6:c.49-5826del	ENSP00000379248.2:n.49-5826del
ENST00000517517.1:n.513+289del
ENST00000519317.5:c.48+6967del	ENSP00000430641.1:n.48+6967del
ENST00000519962.5:c.48+6967del	ENSP00000429140.1:n.48+6967del
ENST00000522368.5:c.373+289del
ENST00000522394.1:c.122+371del	ENSP00000429578.1:n.122+371del
ENST00000523957.1:c.*127+289del	ENSP00000427830.1:n.*127+289del
ENST00000621845.1:c.42+289del	ENSP00000484318.1:n.42+289del
NM_001172477.1:c.420+289del , LRG_788t1:c.420+289del	NP_001165948.1:n.420+289del
NM_001172478.1:c.49-5826del	NP_001165949.1:n.49-5826del
NM_015713.4:c.204+289del , LRG_788t2:c.204+289del	NP_056528.2:n.204+289del
NM_001172478.2:c.49-5826del	NP_001165949.1:n.49-5826del
NM_015713.5:c.204+289del MANE Select	NP_056528.2:n.204+289del