Canonical Allele Identifier: CA1117286829

Gene: RRM2B

Linked Data

• gnomAD v3: 8-102231868-C-CAAAAAAAAAAAAAAAAA
• gnomAD v4: 8-102231868-C-CAAAAAAAAAAAAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.102231870_102231886dup , CM000670.2:g.102231870_102231886dup	GRCh38
NC_000008.10:g.103244098_103244114dup , CM000670.1:g.103244098_103244114dup	GRCh37
NC_000008.9:g.103313274_103313290dup	NCBI36
NG_016617.1:g.12234_12250dup , LRG_788:g.12234_12250dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251810.8:c.204+264_204+280dup MANE Select	ENSP00000251810.3:n.204+264_204+280dup
ENST00000251810.7:c.204+264_204+280dup	ENSP00000251810.3:n.204+264_204+280dup
ENST00000395912.6:c.49-5851_49-5835dup	ENSP00000379248.2:n.49-5851_49-5835dup
ENST00000517517.1:n.513+264_513+280dup
ENST00000519317.5:c.48+6942_48+6958dup	ENSP00000430641.1:n.48+6942_48+6958dup
ENST00000519962.5:c.48+6942_48+6958dup	ENSP00000429140.1:n.48+6942_48+6958dup
ENST00000522368.5:c.373+264_373+280dup
ENST00000522394.1:c.122+346_122+362dup	ENSP00000429578.1:n.122+346_122+362dup
ENST00000523957.1:c.*127+264_*127+280dup	ENSP00000427830.1:n.*127+264_*127+280dup
ENST00000621845.1:c.42+264_42+280dup	ENSP00000484318.1:n.42+264_42+280dup
NM_001172477.1:c.420+264_420+280dup , LRG_788t1:c.420+264_420+280dup	NP_001165948.1:n.420+264_420+280dup
NM_001172478.1:c.49-5851_49-5835dup	NP_001165949.1:n.49-5851_49-5835dup
NM_015713.4:c.204+264_204+280dup , LRG_788t2:c.204+264_204+280dup	NP_056528.2:n.204+264_204+280dup
NM_001172478.2:c.49-5851_49-5835dup	NP_001165949.1:n.49-5851_49-5835dup
NM_015713.5:c.204+264_204+280dup MANE Select	NP_056528.2:n.204+264_204+280dup