Canonical Allele Identifier: CA4831178

Gene: RRM2B

Linked Data

• dbSNP Id: rs758364917
• ExAC: 8:103244405 G / T
• gnomAD v2: 8-103244405-G-T
• gnomAD v4: 8-102232177-G-T
• MyVariant Identifiers: chr8:g.103244405G>T (hg19) ; chr8:g.102232177G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.102232177G>T , CM000670.2:g.102232177G>T	GRCh38
NC_000008.10:g.103244405G>T , CM000670.1:g.103244405G>T	GRCh37
NC_000008.9:g.103313581G>T	NCBI36
NG_016617.1:g.11942C>A , LRG_788:g.11942C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000251810.8:c.176C>A MANE Select	ENSP00000251810.3:p.Ala59Glu
ENST00000251810.7:c.176C>A	ENSP00000251810.3:p.Ala59Glu
ENST00000395912.6:c.49-6143C>A	ENSP00000379248.2:n.49-6143C>A
ENST00000517517.1:n.485C>A
ENST00000519317.5:c.48+6650C>A	ENSP00000430641.1:n.48+6650C>A
ENST00000519962.5:c.48+6650C>A	ENSP00000429140.1:n.48+6650C>A
ENST00000522368.5:c.345C>A
ENST00000522394.1:c.122+54C>A	ENSP00000429578.1:n.122+54C>A
ENST00000523957.1:c.*99C>A	ENSP00000427830.1:n.*99C>A
ENST00000621845.1:c.14C>A	ENSP00000484318.1:p.Ala5Glu
NM_001172477.1:c.392C>A , LRG_788t1:c.392C>A	NP_001165948.1:p.Ala131Glu
NM_001172478.1:c.49-6143C>A	NP_001165949.1:n.49-6143C>A
NM_015713.4:c.176C>A , LRG_788t2:c.176C>A	NP_056528.2:p.Ala59Glu
NM_001172478.2:c.49-6143C>A	NP_001165949.1:n.49-6143C>A
NM_015713.5:c.176C>A MANE Select	NP_056528.2:p.Ala59Glu