Canonical Allele Identifier: CA371596178

Gene: RRM2B

Linked Data

• MyVariant Identifiers: chr8:g.103244454C>A (hg19) ; chr8:g.102232226C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.102232226C>A , CM000670.2:g.102232226C>A	GRCh38
NC_000008.10:g.103244454C>A , CM000670.1:g.103244454C>A	GRCh37
NC_000008.9:g.103313630C>A	NCBI36
NG_016617.1:g.11893G>T , LRG_788:g.11893G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251810.8:c.127G>T MANE Select	ENSP00000251810.3:p.Val43Phe
ENST00000251810.7:c.127G>T	ENSP00000251810.3:p.Val43Phe
ENST00000395912.6:c.49-6192G>T	ENSP00000379248.2:n.49-6192G>T
ENST00000517517.1:n.436G>T
ENST00000519317.5:c.48+6601G>T	ENSP00000430641.1:n.48+6601G>T
ENST00000519962.5:c.48+6601G>T	ENSP00000429140.1:n.48+6601G>T
ENST00000522368.5:c.296G>T
ENST00000522394.1:c.122+5G>T	ENSP00000429578.1:n.122+5G>T
ENST00000523957.1:c.*50G>T	ENSP00000427830.1:n.*50G>T
ENST00000621845.1:c.-36G>T	ENSP00000484318.1:n.-36G>T
NM_001172477.1:c.343G>T , LRG_788t1:c.343G>T	NP_001165948.1:p.Val115Phe
NM_001172478.1:c.49-6192G>T	NP_001165949.1:n.49-6192G>T
NM_015713.4:c.127G>T , LRG_788t2:c.127G>T	NP_056528.2:p.Val43Phe
NM_001172478.2:c.49-6192G>T	NP_001165949.1:n.49-6192G>T
NM_015713.5:c.127G>T MANE Select	NP_056528.2:p.Val43Phe