Canonical Allele Identifier: CA371596274

Gene: RRM2B

Linked Data

• gnomAD v4: 8-102232260-T-G
• MyVariant Identifiers: chr8:g.103244488T>G (hg19) ; chr8:g.102232260T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.102232260T>G , CM000670.2:g.102232260T>G	GRCh38
NC_000008.10:g.103244488T>G , CM000670.1:g.103244488T>G	GRCh37
NC_000008.9:g.103313664T>G	NCBI36
NG_016617.1:g.11859A>C , LRG_788:g.11859A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251810.8:c.93A>C MANE Select	ENSP00000251810.3:p.Glu31Asp
ENST00000251810.7:c.93A>C	ENSP00000251810.3:p.Glu31Asp
ENST00000395912.6:c.49-6226A>C	ENSP00000379248.2:n.49-6226A>C
ENST00000517517.1:n.402A>C
ENST00000519317.5:c.48+6567A>C	ENSP00000430641.1:n.48+6567A>C
ENST00000519962.5:c.48+6567A>C	ENSP00000429140.1:n.48+6567A>C
ENST00000522368.5:c.262A>C
ENST00000522394.1:c.93A>C	ENSP00000429578.1:p.Glu31Asp
ENST00000523957.1:c.*16A>C	ENSP00000427830.1:n.*16A>C
ENST00000621845.1:c.-70A>C	ENSP00000484318.1:n.-70A>C
NM_001172477.1:c.309A>C , LRG_788t1:c.309A>C	NP_001165948.1:p.Glu103Asp
NM_001172478.1:c.49-6226A>C	NP_001165949.1:n.49-6226A>C
NM_015713.4:c.93A>C , LRG_788t2:c.93A>C	NP_056528.2:p.Glu31Asp
NM_001172478.2:c.49-6226A>C	NP_001165949.1:n.49-6226A>C
NM_015713.5:c.93A>C MANE Select	NP_056528.2:p.Glu31Asp