Canonical Allele Identifier: CA4831210

Gene: RRM2B

Linked Data

• ClinVar Variation Id: 377148
• ClinVar RCV Id: RCV000437232 ; RCV002502463 ; RCV003932549
• dbSNP Id: rs149523343
• ExAC: 8:103250782 C / A
• gnomAD v2: 8-103250782-C-A
• gnomAD v3: 8-102238554-C-A
• gnomAD v4: 8-102238554-C-A
• MyVariant Identifiers: chr8:g.103250782C>A (hg19) ; chr8:g.102238554C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.102238554C>A , CM000670.2:g.102238554C>A	GRCh38
NC_000008.10:g.103250782C>A , CM000670.1:g.103250782C>A	GRCh37
NC_000008.9:g.103319958C>A	NCBI36
NG_016617.1:g.5565G>T , LRG_788:g.5565G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251810.8:c.48+273G>T MANE Select	ENSP00000251810.3:n.48+273G>T
ENST00000251810.7:c.48+273G>T	ENSP00000251810.3:n.48+273G>T
ENST00000395912.6:c.48+273G>T	ENSP00000379248.2:n.48+273G>T
ENST00000517517.1:n.244G>T
ENST00000519317.5:c.48+273G>T	ENSP00000430641.1:n.48+273G>T
ENST00000519962.5:c.48+273G>T	ENSP00000429140.1:n.48+273G>T
ENST00000522368.5:c.217+5G>T
ENST00000522394.1:c.48+273G>T	ENSP00000429578.1:n.48+273G>T
ENST00000523957.1:c.48+273G>T	ENSP00000427830.1:n.48+273G>T
ENST00000621845.1:c.-115+5G>T	ENSP00000484318.1:n.-115+5G>T
NM_001172477.1:c.264+5G>T , LRG_788t1:c.264+5G>T	NP_001165948.1:n.264+5G>T
NM_001172478.1:c.48+273G>T	NP_001165949.1:n.48+273G>T
NM_015713.4:c.48+273G>T , LRG_788t2:c.48+273G>T	NP_056528.2:n.48+273G>T
NM_001172478.2:c.48+273G>T	NP_001165949.1:n.48+273G>T
NM_015713.5:c.48+273G>T MANE Select	NP_056528.2:n.48+273G>T