Canonical Allele Identifier: CA1117286800
Gene: RRM2B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.102231877_102231878insTAAAAAAAAAAAAAAAAAAAAAA , CM000670.2:g.102231877_102231878insTAAAAAAAAAAAAAAAAAAAAAA GRCh38
NC_000008.10:g.103244105_103244106insTAAAAAAAAAAAAAAAAAAAAAA , CM000670.1:g.103244105_103244106insTAAAAAAAAAAAAAAAAAAAAAA GRCh37
NC_000008.9:g.103313281_103313282insTAAAAAAAAAAAAAAAAAAAAAA NCBI36
NG_016617.1:g.12250_12251insTTTTTTTTTTTTTATTTTTTTTT , LRG_788:g.12250_12251insTTTTTTTTTTTTTATTTTTTTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000251810.8:c.204+280_204+281insTTTTTTTTTTTTTATTTTTTTTT MANE Select ENSP00000251810.3:n.204+280_204+281insTTTTTTTTTTTTTATTTTTTTTT...
ENST00000251810.7:c.204+280_204+281insTTTTTTTTTTTTTATTTTTTTTT ENSP00000251810.3:n.204+280_204+281insTTTTTTTTTTTTTATTTTTTTTT...
ENST00000395912.6:c.49-5835_49-5834insTTTTTTTTTTTTTATTTTTTTTT ENSP00000379248.2:n.49-5835_49-5834insTTTTTTTTTTTTTATTTTTTTTT...
ENST00000517517.1:n.513+280_513+281insTTTTTTTTTTTTTATTTTTTTTT
ENST00000519317.5:c.48+6958_48+6959insTTTTTTTTTTTTTATTTTTTTTT ENSP00000430641.1:n.48+6958_48+6959insTTTTTTTTTTTTTATTTTTTTTT...
ENST00000519962.5:c.48+6958_48+6959insTTTTTTTTTTTTTATTTTTTTTT ENSP00000429140.1:n.48+6958_48+6959insTTTTTTTTTTTTTATTTTTTTTT...
ENST00000522368.5:c.373+280_373+281insTTTTTTTTTTTTTATTTTTTTTT
ENST00000522394.1:c.122+362_122+363insTTTTTTTTTTTTTATTTTTTTTT ENSP00000429578.1:n.122+362_122+363insTTTTTTTTTTTTTATTTTTTTTT...
ENST00000523957.1:c.*127+280_*127+281insTTTTTTTTTTTTTATTTTTTTTT ENSP00000427830.1:n.*127+280_*127+281insTTTTTTTTTTTTTATTTTTTT...
ENST00000621845.1:c.42+280_42+281insTTTTTTTTTTTTTATTTTTTTTT ENSP00000484318.1:n.42+280_42+281insTTTTTTTTTTTTTATTTTTTTTT
NM_001172477.1:c.420+280_420+281insTTTTTTTTTTTTTATTTTTTTTT , LRG_788t1:c.420+280_420+281insTTTTTTTTTTTTTATTTTTTTTT NP_001165948.1:n.420+280_420+281insTTTTTTTTTTTTTATTTTTTTTT
NM_001172478.1:c.49-5835_49-5834insTTTTTTTTTTTTTATTTTTTTTT NP_001165949.1:n.49-5835_49-5834insTTTTTTTTTTTTTATTTTTTTTT
NM_015713.4:c.204+280_204+281insTTTTTTTTTTTTTATTTTTTTTT , LRG_788t2:c.204+280_204+281insTTTTTTTTTTTTTATTTTTTTTT NP_056528.2:n.204+280_204+281insTTTTTTTTTTTTTATTTTTTTTT
NM_001172478.2:c.49-5835_49-5834insTTTTTTTTTTTTTATTTTTTTTT NP_001165949.1:n.49-5835_49-5834insTTTTTTTTTTTTTATTTTTTTTT
NM_015713.5:c.204+280_204+281insTTTTTTTTTTTTTATTTTTTTTT MANE Select NP_056528.2:n.204+280_204+281insTTTTTTTTTTTTTATTTTTTTTT