Canonical Allele Identifier: CA371593146
Gene: RRM2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.102224984T>A , CM000670.2:g.102224984T>A GRCh38
NC_000008.10:g.103237212T>A , CM000670.1:g.103237212T>A GRCh37
NC_000008.9:g.103306388T>A NCBI36
NG_016617.1:g.19135A>T , LRG_788:g.19135A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000251810.8:c.356A>T MANE Select ENSP00000251810.3:p.Glu119Val
ENST00000251810.7:c.356A>T ENSP00000251810.3:p.Glu119Val
ENST00000395912.6:c.200A>T ENSP00000379248.2:p.Glu67Val
ENST00000519317.5:c.49-10826A>T ENSP00000430641.1:n.49-10826A>T
ENST00000519962.5:c.48+13843A>T ENSP00000429140.1:n.48+13843A>T
ENST00000522368.5:c.525A>T
ENST00000522394.1:c.122+7247A>T ENSP00000429578.1:n.122+7247A>T
ENST00000523957.1:c.*279A>T ENSP00000427830.1:n.*279A>T
ENST00000621845.1:c.194A>T ENSP00000484318.1:p.Glu65Val
NM_001172477.1:c.572A>T , LRG_788t1:c.572A>T NP_001165948.1:p.Glu191Val
NM_001172478.1:c.200A>T NP_001165949.1:p.Glu67Val
NM_015713.4:c.356A>T , LRG_788t2:c.356A>T NP_056528.2:p.Glu119Val
NM_001172478.2:c.200A>T NP_001165949.1:p.Glu67Val
NM_015713.5:c.356A>T MANE Select NP_056528.2:p.Glu119Val