Canonical Allele Identifier: CA117487

Gene: RRM2B

Linked Data

• ClinVar Variation Id: 5391
• ClinVar RCV Id: RCV000005722 ; RCV000119016 ; RCV000197531
• dbSNP Id: rs121918310
• COSMIC: COSM3431970
• MyVariant Identifiers: chr8:g.103220438G>A (hg19) ; chr8:g.102208210G>A (hg38)
• PubMed: PMID:19664747 ; PMID:24741716

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.102208210G>A , CM000670.2:g.102208210G>A	GRCh38
NC_000008.10:g.103220438G>A , CM000670.1:g.103220438G>A	GRCh37
NC_000008.9:g.103289614G>A	NCBI36
NG_016617.1:g.35909C>T , LRG_788:g.35909C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251810.8:c.979C>T MANE Select	ENSP00000251810.3:p.Arg327Ter
ENST00000251810.7:c.979C>T	ENSP00000251810.3:p.Arg327Ter
ENST00000395910.6:n.366C>T
ENST00000395912.6:c.823C>T	ENSP00000379248.2:p.Arg275Ter
ENST00000519317.5:c.343C>T	ENSP00000430641.1:p.Arg115Ter
ENST00000519962.5:c.124C>T	ENSP00000429140.1:p.Arg42Ter
ENST00000522368.5:c.1148C>T
ENST00000522394.1:c.312C>T	ENSP00000429578.1:n.312C>T
ENST00000621845.1:c.817C>T	ENSP00000484318.1:p.Arg273Ter
NM_001172477.1:c.1195C>T , LRG_788t1:c.1195C>T	NP_001165948.1:p.Arg399Ter
NM_001172478.1:c.823C>T	NP_001165949.1:p.Arg275Ter
NM_015713.4:c.979C>T , LRG_788t2:c.979C>T	NP_056528.2:p.Arg327Ter
NM_001172478.2:c.823C>T	NP_001165949.1:p.Arg275Ter
NM_015713.5:c.979C>T MANE Select	NP_056528.2:p.Arg327Ter