Canonical Allele Identifier: CA371595689

Gene: RRM2B

Linked Data

• gnomAD v4: 8-102232150-T-C
• MyVariant Identifiers: chr8:g.103244378T>C (hg19) ; chr8:g.102232150T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.102232150T>C , CM000670.2:g.102232150T>C	GRCh38
NC_000008.10:g.103244378T>C , CM000670.1:g.103244378T>C	GRCh37
NC_000008.9:g.103313554T>C	NCBI36
NG_016617.1:g.11969A>G , LRG_788:g.11969A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251810.8:c.203A>G MANE Select	ENSP00000251810.3:p.Glu68Gly
ENST00000251810.7:c.203A>G	ENSP00000251810.3:p.Glu68Gly
ENST00000395912.6:c.49-6116A>G	ENSP00000379248.2:n.49-6116A>G
ENST00000517517.1:n.512A>G
ENST00000519317.5:c.48+6677A>G	ENSP00000430641.1:n.48+6677A>G
ENST00000519962.5:c.48+6677A>G	ENSP00000429140.1:n.48+6677A>G
ENST00000522368.5:c.372A>G
ENST00000522394.1:c.122+81A>G	ENSP00000429578.1:n.122+81A>G
ENST00000523957.1:c.*126A>G	ENSP00000427830.1:n.*126A>G
ENST00000621845.1:c.41A>G	ENSP00000484318.1:p.Glu14Gly
NM_001172477.1:c.419A>G , LRG_788t1:c.419A>G	NP_001165948.1:p.Glu140Gly
NM_001172478.1:c.49-6116A>G	NP_001165949.1:n.49-6116A>G
NM_015713.4:c.203A>G , LRG_788t2:c.203A>G	NP_056528.2:p.Glu68Gly
NM_001172478.2:c.49-6116A>G	NP_001165949.1:n.49-6116A>G
NM_015713.5:c.203A>G MANE Select	NP_056528.2:p.Glu68Gly