Canonical Allele Identifier: CA117479
Gene: RRM2B HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.102218918C>T , CM000670.2:g.102218918C>T GRCh38
NC_000008.10:g.103231146C>T , CM000670.1:g.103231146C>T GRCh37
NC_000008.9:g.103300322C>T NCBI36
NG_016617.1:g.25201G>A , LRG_788:g.25201G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000251810.8:c.580G>A MANE Select ENSP00000251810.3:p.Glu194Lys
ENST00000251810.7:c.580G>A ENSP00000251810.3:p.Glu194Lys
ENST00000395912.6:c.424G>A ENSP00000379248.2:p.Glu142Lys
ENST00000519125.1:n.98G>A
ENST00000519317.5:c.49-4760G>A ENSP00000430641.1:n.49-4760G>A
ENST00000519962.5:c.49-10633G>A ENSP00000429140.1:n.49-10633G>A
ENST00000522368.5:c.749G>A
ENST00000522394.1:c.123-6029G>A ENSP00000429578.1:n.123-6029G>A
ENST00000621845.1:c.418G>A ENSP00000484318.1:p.Glu140Lys
NM_001172477.1:c.796G>A , LRG_788t1:c.796G>A NP_001165948.1:p.Glu266Lys
NM_001172478.1:c.424G>A NP_001165949.1:p.Glu142Lys
NM_015713.4:c.580G>A , LRG_788t2:c.580G>A NP_056528.2:p.Glu194Lys
NM_001172478.2:c.424G>A NP_001165949.1:p.Glu142Lys
NM_015713.5:c.580G>A MANE Select NP_056528.2:p.Glu194Lys