Canonical Allele Identifier: CA1117286773

Gene: RRM2B

Linked Data

• gnomAD v3: 8-102231867-T-TAAAAAAA
• gnomAD v4: 8-102231867-T-TAAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.102231867_102231868insAAAAAAA , CM000670.2:g.102231867_102231868insAAAAAAA	GRCh38
NC_000008.10:g.103244095_103244096insAAAAAAA , CM000670.1:g.103244095_103244096insAAAAAAA	GRCh37
NC_000008.9:g.103313271_103313272insAAAAAAA	NCBI36
NG_016617.1:g.12251_12252insTTTTTTT , LRG_788:g.12251_12252insTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251810.8:c.204+281_204+282insTTTTTTT MANE Select	ENSP00000251810.3:n.204+281_204+282insTTTTTTT
ENST00000251810.7:c.204+281_204+282insTTTTTTT	ENSP00000251810.3:n.204+281_204+282insTTTTTTT
ENST00000395912.6:c.49-5834_49-5833insTTTTTTT	ENSP00000379248.2:n.49-5834_49-5833insTTTTTTT
ENST00000517517.1:n.513+281_513+282insTTTTTTT
ENST00000519317.5:c.48+6959_48+6960insTTTTTTT	ENSP00000430641.1:n.48+6959_48+6960insTTTTTTT
ENST00000519962.5:c.48+6959_48+6960insTTTTTTT	ENSP00000429140.1:n.48+6959_48+6960insTTTTTTT
ENST00000522368.5:c.373+281_373+282insTTTTTTT
ENST00000522394.1:c.122+363_122+364insTTTTTTT	ENSP00000429578.1:n.122+363_122+364insTTTTTTT
ENST00000523957.1:c.*127+281_*127+282insTTTTTTT	ENSP00000427830.1:n.*127+281_*127+282insTTTTTTT
ENST00000621845.1:c.42+281_42+282insTTTTTTT	ENSP00000484318.1:n.42+281_42+282insTTTTTTT
NM_001172477.1:c.420+281_420+282insTTTTTTT , LRG_788t1:c.420+281_420+282insTTTTTTT	NP_001165948.1:n.420+281_420+282insTTTTTTT
NM_001172478.1:c.49-5834_49-5833insTTTTTTT	NP_001165949.1:n.49-5834_49-5833insTTTTTTT
NM_015713.4:c.204+281_204+282insTTTTTTT , LRG_788t2:c.204+281_204+282insTTTTTTT	NP_056528.2:n.204+281_204+282insTTTTTTT
NM_001172478.2:c.49-5834_49-5833insTTTTTTT	NP_001165949.1:n.49-5834_49-5833insTTTTTTT
NM_015713.5:c.204+281_204+282insTTTTTTT MANE Select	NP_056528.2:n.204+281_204+282insTTTTTTT