Canonical Allele Identifier: CA371595883

Gene: RRM2B

Linked Data

• ClinVar Variation Id: 2435485
• ClinVar RCV Id: RCV003135807
• gnomAD v4: 8-102232172-C-G
• MyVariant Identifiers: chr8:g.103244400C>G (hg19) ; chr8:g.102232172C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.102232172C>G , CM000670.2:g.102232172C>G	GRCh38
NC_000008.10:g.103244400C>G , CM000670.1:g.103244400C>G	GRCh37
NC_000008.9:g.103313576C>G	NCBI36
NG_016617.1:g.11947G>C , LRG_788:g.11947G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000251810.8:c.181G>C MANE Select	ENSP00000251810.3:p.Ala61Pro
ENST00000251810.7:c.181G>C	ENSP00000251810.3:p.Ala61Pro
ENST00000395912.6:c.49-6138G>C	ENSP00000379248.2:n.49-6138G>C
ENST00000517517.1:n.490G>C
ENST00000519317.5:c.48+6655G>C	ENSP00000430641.1:n.48+6655G>C
ENST00000519962.5:c.48+6655G>C	ENSP00000429140.1:n.48+6655G>C
ENST00000522368.5:c.350G>C
ENST00000522394.1:c.122+59G>C	ENSP00000429578.1:n.122+59G>C
ENST00000523957.1:c.*104G>C	ENSP00000427830.1:n.*104G>C
ENST00000621845.1:c.19G>C	ENSP00000484318.1:p.Ala7Pro
NM_001172477.1:c.397G>C , LRG_788t1:c.397G>C	NP_001165948.1:p.Ala133Pro
NM_001172478.1:c.49-6138G>C	NP_001165949.1:n.49-6138G>C
NM_015713.4:c.181G>C , LRG_788t2:c.181G>C	NP_056528.2:p.Ala61Pro
NM_001172478.2:c.49-6138G>C	NP_001165949.1:n.49-6138G>C
NM_015713.5:c.181G>C MANE Select	NP_056528.2:p.Ala61Pro