Canonical Allele Identifier: CA4831179

Gene: RRM2B

Linked Data

• dbSNP Id: rs780008534
• ExAC: 8:103244413 A / C
• gnomAD v2: 8-103244413-A-C
• gnomAD v3: 8-102232185-A-C
• gnomAD v4: 8-102232185-A-C
• MyVariant Identifiers: chr8:g.103244413A>C (hg19) ; chr8:g.102232185A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.102232185A>C , CM000670.2:g.102232185A>C	GRCh38
NC_000008.10:g.103244413A>C , CM000670.1:g.103244413A>C	GRCh37
NC_000008.9:g.103313589A>C	NCBI36
NG_016617.1:g.11934T>G , LRG_788:g.11934T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251810.8:c.168T>G MANE Select	ENSP00000251810.3:p.Tyr56Ter
ENST00000251810.7:c.168T>G	ENSP00000251810.3:p.Tyr56Ter
ENST00000395912.6:c.49-6151T>G	ENSP00000379248.2:n.49-6151T>G
ENST00000517517.1:n.477T>G
ENST00000519317.5:c.48+6642T>G	ENSP00000430641.1:n.48+6642T>G
ENST00000519962.5:c.48+6642T>G	ENSP00000429140.1:n.48+6642T>G
ENST00000522368.5:c.337T>G
ENST00000522394.1:c.122+46T>G	ENSP00000429578.1:n.122+46T>G
ENST00000523957.1:c.*91T>G	ENSP00000427830.1:n.*91T>G
ENST00000621845.1:c.6T>G	ENSP00000484318.1:p.Tyr2Ter
NM_001172477.1:c.384T>G , LRG_788t1:c.384T>G	NP_001165948.1:p.Tyr128Ter
NM_001172478.1:c.49-6151T>G	NP_001165949.1:n.49-6151T>G
NM_015713.4:c.168T>G , LRG_788t2:c.168T>G	NP_056528.2:p.Tyr56Ter
NM_001172478.2:c.49-6151T>G	NP_001165949.1:n.49-6151T>G
NM_015713.5:c.168T>G MANE Select	NP_056528.2:p.Tyr56Ter