Canonical Allele Identifier: CA371592168

Gene: RRM2B

Linked Data

• ClinVar Variation Id: 1524868
• ClinVar RCV Id: RCV002049688 ; RCV002498084
• dbSNP Id: rs2132555188
• MyVariant Identifiers: chr8:g.103237112C>T (hg19) ; chr8:g.102224884C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.102224884C>T , CM000670.2:g.102224884C>T	GRCh38
NC_000008.10:g.103237112C>T , CM000670.1:g.103237112C>T	GRCh37
NC_000008.9:g.103306288C>T	NCBI36
NG_016617.1:g.19235G>A , LRG_788:g.19235G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000251810.8:c.455+1G>A MANE Select	ENSP00000251810.3:n.455+1G>A
ENST00000251810.7:c.455+1G>A	ENSP00000251810.3:n.455+1G>A
ENST00000395912.6:c.299+1G>A	ENSP00000379248.2:n.299+1G>A
ENST00000519317.5:c.49-10726G>A	ENSP00000430641.1:n.49-10726G>A
ENST00000519962.5:c.48+13943G>A	ENSP00000429140.1:n.48+13943G>A
ENST00000522368.5:c.624+1G>A
ENST00000522394.1:c.122+7347G>A	ENSP00000429578.1:n.122+7347G>A
ENST00000621845.1:c.293+1G>A	ENSP00000484318.1:n.293+1G>A
NM_001172477.1:c.671+1G>A , LRG_788t1:c.671+1G>A	NP_001165948.1:n.671+1G>A
NM_001172478.1:c.299+1G>A	NP_001165949.1:n.299+1G>A
NM_015713.4:c.455+1G>A , LRG_788t2:c.455+1G>A	NP_056528.2:n.455+1G>A
NM_001172478.2:c.299+1G>A	NP_001165949.1:n.299+1G>A
NM_015713.5:c.455+1G>A MANE Select	NP_056528.2:n.455+1G>A