Canonical Allele Identifier: CA4831123

Gene: RRM2B

Linked Data

• dbSNP Id: rs766279372
• ExAC: 8:103237209 G / A
• gnomAD v2: 8-103237209-G-A
• gnomAD v3: 8-102224981-G-A
• gnomAD v4: 8-102224981-G-A
• MyVariant Identifiers: chr8:g.103237209G>A (hg19) ; chr8:g.102224981G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.102224981G>A , CM000670.2:g.102224981G>A	GRCh38
NC_000008.10:g.103237209G>A , CM000670.1:g.103237209G>A	GRCh37
NC_000008.9:g.103306385G>A	NCBI36
NG_016617.1:g.19138C>T , LRG_788:g.19138C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000251810.8:c.359C>T MANE Select	ENSP00000251810.3:p.Ala120Val
ENST00000251810.7:c.359C>T	ENSP00000251810.3:p.Ala120Val
ENST00000395912.6:c.203C>T	ENSP00000379248.2:p.Ala68Val
ENST00000519317.5:c.49-10823C>T	ENSP00000430641.1:n.49-10823C>T
ENST00000519962.5:c.48+13846C>T	ENSP00000429140.1:n.48+13846C>T
ENST00000522368.5:c.528C>T
ENST00000522394.1:c.122+7250C>T	ENSP00000429578.1:n.122+7250C>T
ENST00000523957.1:c.*282C>T	ENSP00000427830.1:n.*282C>T
ENST00000621845.1:c.197C>T	ENSP00000484318.1:p.Ala66Val
NM_001172477.1:c.575C>T , LRG_788t1:c.575C>T	NP_001165948.1:p.Ala192Val
NM_001172478.1:c.203C>T	NP_001165949.1:p.Ala68Val
NM_015713.4:c.359C>T , LRG_788t2:c.359C>T	NP_056528.2:p.Ala120Val
NM_001172478.2:c.203C>T	NP_001165949.1:p.Ala68Val
NM_015713.5:c.359C>T MANE Select	NP_056528.2:p.Ala120Val