Canonical Allele Identifier: CA371596270
Community Standard Title: NM_015713.5(RRM2B):c.94G>T (p.Glu32Ter)
Gene: RRM2B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.102232259C>A , CM000670.2:g.102232259C>A GRCh38
NC_000008.10:g.103244487C>A , CM000670.1:g.103244487C>A GRCh37
NC_000008.9:g.103313663C>A NCBI36
NG_016617.1:g.11860G>T , LRG_788:g.11860G>T

Transcript Alleles

HGVS Amino-acid Change
NM_015713.5:c.94G>T MANE Select NP_056528.2:p.Glu32Ter
ENST00000251810.8:c.94G>T MANE Select ENSP00000251810.3:p.Glu32Ter
NM_001172477.1:c.310G>T , LRG_788t1:c.310G>T NP_001165948.1:p.Glu104Ter
NM_001172478.1:c.49-6225G>T NP_001165949.1:n.49-6225G>T
NM_001172478.2:c.49-6225G>T NP_001165949.1:n.49-6225G>T
NM_015713.4:c.94G>T , LRG_788t2:c.94G>T NP_056528.2:p.Glu32Ter
ENST00000251810.7:c.94G>T ENSP00000251810.3:p.Glu32Ter
ENST00000395912.6:c.49-6225G>T ENSP00000379248.2:n.49-6225G>T
ENST00000517517.1:n.403G>T
ENST00000519317.5:c.48+6568G>T ENSP00000430641.1:n.48+6568G>T
ENST00000519962.5:c.48+6568G>T ENSP00000429140.1:n.48+6568G>T
ENST00000522368.5:c.263G>T
ENST00000522394.1:c.94G>T ENSP00000429578.1:p.Glu32Ter
ENST00000523957.1:c.*17G>T ENSP00000427830.1:n.*17G>T
ENST00000621845.1:c.-69G>T ENSP00000484318.1:n.-69G>T