Canonical Allele Identifier: CA182476068
Community Standard Title: NM_015713.5(RRM2B):c.321+218G>A
Gene: RRM2B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.102225700C>T , CM000670.2:g.102225700C>T GRCh38
NC_000008.10:g.103237928C>T , CM000670.1:g.103237928C>T GRCh37
NC_000008.9:g.103307104C>T NCBI36
NG_016617.1:g.18419G>A , LRG_788:g.18419G>A

Transcript Alleles

HGVS Amino-acid Change
NM_015713.5:c.321+218G>A MANE Select NP_056528.2:n.321+218G>A
ENST00000251810.8:c.321+218G>A MANE Select ENSP00000251810.3:n.321+218G>A
NM_001172477.1:c.537+218G>A , LRG_788t1:c.537+218G>A NP_001165948.1:n.537+218G>A
NM_001172478.1:c.165+218G>A NP_001165949.1:n.165+218G>A
NM_001172478.2:c.165+218G>A NP_001165949.1:n.165+218G>A
NM_015713.4:c.321+218G>A , LRG_788t2:c.321+218G>A NP_056528.2:n.321+218G>A
ENST00000251810.7:c.321+218G>A ENSP00000251810.3:n.321+218G>A
ENST00000395912.6:c.165+218G>A ENSP00000379248.2:n.165+218G>A
ENST00000519317.5:c.49-11542G>A ENSP00000430641.1:n.49-11542G>A
ENST00000519962.5:c.48+13127G>A ENSP00000429140.1:n.48+13127G>A
ENST00000522368.5:c.490+218G>A
ENST00000522394.1:c.122+6531G>A ENSP00000429578.1:n.122+6531G>A
ENST00000523957.1:c.*244+218G>A ENSP00000427830.1:n.*244+218G>A
ENST00000621845.1:c.159+218G>A ENSP00000484318.1:n.159+218G>A