Canonical Allele Identifier: CA583912270

Gene: RRM2B

Linked Data

• dbSNP Id: rs1250881056
• gnomAD v2: 8-103244096-C-CAAAAAA
• gnomAD v3: 8-102231868-C-CAAAAAA
• gnomAD v4: 8-102231868-C-CAAAAAA
• MyVariant Identifiers: chr8:g.103244097_103244098insAAAAAA (hg19) ; chr8:g.102231869_102231870insAAAAAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.102231881_102231886dup , CM000670.2:g.102231881_102231886dup	GRCh38
NC_000008.10:g.103244109_103244114dup , CM000670.1:g.103244109_103244114dup	GRCh37
NC_000008.9:g.103313285_103313290dup	NCBI36
NG_016617.1:g.12245_12250dup , LRG_788:g.12245_12250dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251810.8:c.204+275_204+280dup MANE Select	ENSP00000251810.3:n.204+275_204+280dup
ENST00000251810.7:c.204+275_204+280dup	ENSP00000251810.3:n.204+275_204+280dup
ENST00000395912.6:c.49-5840_49-5835dup	ENSP00000379248.2:n.49-5840_49-5835dup
ENST00000517517.1:n.513+275_513+280dup
ENST00000519317.5:c.48+6953_48+6958dup	ENSP00000430641.1:n.48+6953_48+6958dup
ENST00000519962.5:c.48+6953_48+6958dup	ENSP00000429140.1:n.48+6953_48+6958dup
ENST00000522368.5:c.373+275_373+280dup
ENST00000522394.1:c.122+357_122+362dup	ENSP00000429578.1:n.122+357_122+362dup
ENST00000523957.1:c.*127+275_*127+280dup	ENSP00000427830.1:n.*127+275_*127+280dup
ENST00000621845.1:c.42+275_42+280dup	ENSP00000484318.1:n.42+275_42+280dup
NM_001172477.1:c.420+275_420+280dup , LRG_788t1:c.420+275_420+280dup	NP_001165948.1:n.420+275_420+280dup
NM_001172478.1:c.49-5840_49-5835dup	NP_001165949.1:n.49-5840_49-5835dup
NM_015713.4:c.204+275_204+280dup , LRG_788t2:c.204+275_204+280dup	NP_056528.2:n.204+275_204+280dup
NM_001172478.2:c.49-5840_49-5835dup	NP_001165949.1:n.49-5840_49-5835dup
NM_015713.5:c.204+275_204+280dup MANE Select	NP_056528.2:n.204+275_204+280dup