Canonical Allele Identifier: CA117483
Gene: RRM2B HGNC NCBI

Linked Data

ClinVar Variation Id: 5390
dbSNP Id: rs121918309

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.102214136C>A , CM000670.2:g.102214136C>A GRCh38
NC_000008.10:g.103226364C>A , CM000670.1:g.103226364C>A GRCh37
NC_000008.9:g.103295540C>A NCBI36
NG_016617.1:g.29983G>T , LRG_788:g.29983G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000251810.8:c.707G>T MANE Select ENSP00000251810.3:p.Cys236Phe
ENST00000251810.7:c.707G>T ENSP00000251810.3:p.Cys236Phe
ENST00000395910.6:n.94G>T
ENST00000395912.6:c.551G>T ENSP00000379248.2:p.Cys184Phe
ENST00000519125.1:n.225G>T
ENST00000519317.5:c.71G>T ENSP00000430641.1:p.Cys24Phe
ENST00000519962.5:c.49-5851G>T ENSP00000429140.1:n.49-5851G>T
ENST00000522368.5:c.876G>T
ENST00000522394.1:c.123-1247G>T ENSP00000429578.1:n.123-1247G>T
ENST00000621845.1:c.545G>T ENSP00000484318.1:p.Cys182Phe
NM_001172477.1:c.923G>T , LRG_788t1:c.923G>T NP_001165948.1:p.Cys308Phe
NM_001172478.1:c.551G>T NP_001165949.1:p.Cys184Phe
NM_015713.4:c.707G>T , LRG_788t2:c.707G>T NP_056528.2:p.Cys236Phe
NM_001172478.2:c.551G>T NP_001165949.1:p.Cys184Phe
NM_015713.5:c.707G>T MANE Select NP_056528.2:p.Cys236Phe