Canonical Allele Identifier: CA371593083
Gene: RRM2B HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.102224972A>T , CM000670.2:g.102224972A>T GRCh38
NC_000008.10:g.103237200A>T , CM000670.1:g.103237200A>T GRCh37
NC_000008.9:g.103306376A>T NCBI36
NG_016617.1:g.19147T>A , LRG_788:g.19147T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000251810.8:c.368T>A MANE Select ENSP00000251810.3:p.Phe123Tyr
ENST00000251810.7:c.368T>A ENSP00000251810.3:p.Phe123Tyr
ENST00000395912.6:c.212T>A ENSP00000379248.2:p.Phe71Tyr
ENST00000519317.5:c.49-10814T>A ENSP00000430641.1:n.49-10814T>A
ENST00000519962.5:c.48+13855T>A ENSP00000429140.1:n.48+13855T>A
ENST00000522368.5:c.537T>A
ENST00000522394.1:c.122+7259T>A ENSP00000429578.1:n.122+7259T>A
ENST00000523957.1:c.*291T>A ENSP00000427830.1:n.*291T>A
ENST00000621845.1:c.206T>A ENSP00000484318.1:p.Phe69Tyr
NM_001172477.1:c.584T>A , LRG_788t1:c.584T>A NP_001165948.1:p.Phe195Tyr
NM_001172478.1:c.212T>A NP_001165949.1:p.Phe71Tyr
NM_015713.4:c.368T>A , LRG_788t2:c.368T>A NP_056528.2:p.Phe123Tyr
NM_001172478.2:c.212T>A NP_001165949.1:p.Phe71Tyr
NM_015713.5:c.368T>A MANE Select NP_056528.2:p.Phe123Tyr