Canonical Allele Identifier: CA1117286735

Gene: RRM2B

Linked Data

• gnomAD v3: 8-102231864-GTC-G
• gnomAD v4: 8-102231864-GTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.102231867_102231868del , CM000670.2:g.102231867_102231868del	GRCh38
NC_000008.10:g.103244095_103244096del , CM000670.1:g.103244095_103244096del	GRCh37
NC_000008.9:g.103313271_103313272del	NCBI36
NG_016617.1:g.12253_12254del , LRG_788:g.12253_12254del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251810.8:c.204+283_204+284del MANE Select	ENSP00000251810.3:n.204+283_204+284del
ENST00000251810.7:c.204+283_204+284del	ENSP00000251810.3:n.204+283_204+284del
ENST00000395912.6:c.49-5832_49-5831del	ENSP00000379248.2:n.49-5832_49-5831del
ENST00000517517.1:n.513+283_513+284del
ENST00000519317.5:c.48+6961_48+6962del	ENSP00000430641.1:n.48+6961_48+6962del
ENST00000519962.5:c.48+6961_48+6962del	ENSP00000429140.1:n.48+6961_48+6962del
ENST00000522368.5:c.373+283_373+284del
ENST00000522394.1:c.122+365_122+366del	ENSP00000429578.1:n.122+365_122+366del
ENST00000523957.1:c.*127+283_*127+284del	ENSP00000427830.1:n.*127+283_*127+284del
ENST00000621845.1:c.42+283_42+284del	ENSP00000484318.1:n.42+283_42+284del
NM_001172477.1:c.420+283_420+284del , LRG_788t1:c.420+283_420+284del	NP_001165948.1:n.420+283_420+284del
NM_001172478.1:c.49-5832_49-5831del	NP_001165949.1:n.49-5832_49-5831del
NM_015713.4:c.204+283_204+284del , LRG_788t2:c.204+283_204+284del	NP_056528.2:n.204+283_204+284del
NM_001172478.2:c.49-5832_49-5831del	NP_001165949.1:n.49-5832_49-5831del
NM_015713.5:c.204+283_204+284del MANE Select	NP_056528.2:n.204+283_204+284del