Canonical Allele Identifier: CA1117286794

Gene: RRM2B

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.102231892_102231893insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAA , CM000670.2:g.102231892_102231893insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAA	GRCh38
NC_000008.10:g.103244120_103244121insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAA , CM000670.1:g.103244120_103244121insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAA	GRCh37
NC_000008.9:g.103313296_103313297insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAA	NCBI36
NG_016617.1:g.12250_12251insTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTT , LRG_788:g.12250_12251insTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTT

Transcript Alleles

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