Canonical Allele Identifier: CA462128449

Gene: RRM2B

Linked Data

• gnomAD v4: 8-102232164-G-A
• MyVariant Identifiers: chr8:g.103244392G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.102232164G>A , CM000670.2:g.102232164G>A	GRCh38
NC_000008.10:g.103244392G>A , CM000670.1:g.103244392G>A	GRCh37
NC_000008.9:g.103313568G>A	NCBI36
NG_016617.1:g.11955C>T , LRG_788:g.11955C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000251810.8:c.189C>T MANE Select	ENSP00000251810.3:p.Phe63=
ENST00000251810.7:c.189C>T	ENSP00000251810.3:p.Phe63=
ENST00000395912.6:c.49-6130C>T	ENSP00000379248.2:n.49-6130C>T
ENST00000517517.1:n.498C>T
ENST00000519317.5:c.48+6663C>T	ENSP00000430641.1:n.48+6663C>T
ENST00000519962.5:c.48+6663C>T	ENSP00000429140.1:n.48+6663C>T
ENST00000522368.5:c.358C>T
ENST00000522394.1:c.122+67C>T	ENSP00000429578.1:n.122+67C>T
ENST00000523957.1:c.*112C>T	ENSP00000427830.1:n.*112C>T
ENST00000621845.1:c.27C>T	ENSP00000484318.1:p.Phe9=
NM_001172477.1:c.405C>T , LRG_788t1:c.405C>T	NP_001165948.1:p.Phe135=
NM_001172478.1:c.49-6130C>T	NP_001165949.1:n.49-6130C>T
NM_015713.4:c.189C>T , LRG_788t2:c.189C>T	NP_056528.2:p.Phe63=
NM_001172478.2:c.49-6130C>T	NP_001165949.1:n.49-6130C>T
NM_015713.5:c.189C>T MANE Select	NP_056528.2:p.Phe63=