Canonical Allele Identifier: CA844774642

Gene: RRM2B

Linked Data

• dbSNP Id: rs1452145535
• gnomAD v3: 8-102231883-AAAAG-A
• gnomAD v4: 8-102231883-AAAAG-A
• MyVariant Identifiers: chr8:g.103244112_103244115del (hg19) ; chr8:g.102231884_102231887del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.102231887_102231890del , CM000670.2:g.102231887_102231890del	GRCh38
NC_000008.10:g.103244115_103244118del , CM000670.1:g.103244115_103244118del	GRCh37
NC_000008.9:g.103313291_103313294del	NCBI36
NG_016617.1:g.12232_12235del , LRG_788:g.12232_12235del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251810.8:c.204+262_204+265del MANE Select	ENSP00000251810.3:n.204+262_204+265del
ENST00000251810.7:c.204+262_204+265del	ENSP00000251810.3:n.204+262_204+265del
ENST00000395912.6:c.49-5853_49-5850del	ENSP00000379248.2:n.49-5853_49-5850del
ENST00000517517.1:n.513+262_513+265del
ENST00000519317.5:c.48+6940_48+6943del	ENSP00000430641.1:n.48+6940_48+6943del
ENST00000519962.5:c.48+6940_48+6943del	ENSP00000429140.1:n.48+6940_48+6943del
ENST00000522368.5:c.373+262_373+265del
ENST00000522394.1:c.122+344_122+347del	ENSP00000429578.1:n.122+344_122+347del
ENST00000523957.1:c.*127+262_*127+265del	ENSP00000427830.1:n.*127+262_*127+265del
ENST00000621845.1:c.42+262_42+265del	ENSP00000484318.1:n.42+262_42+265del
NM_001172477.1:c.420+262_420+265del , LRG_788t1:c.420+262_420+265del	NP_001165948.1:n.420+262_420+265del
NM_001172478.1:c.49-5853_49-5850del	NP_001165949.1:n.49-5853_49-5850del
NM_015713.4:c.204+262_204+265del , LRG_788t2:c.204+262_204+265del	NP_056528.2:n.204+262_204+265del
NM_001172478.2:c.49-5853_49-5850del	NP_001165949.1:n.49-5853_49-5850del
NM_015713.5:c.204+262_204+265del MANE Select	NP_056528.2:n.204+262_204+265del