Canonical Allele Identifier: CA4831112

Gene: RRM2B

Linked Data

• ClinVar Variation Id: 2986020
• ClinVar RCV Id: RCV003841627
• dbSNP Id: rs752230983
• ExAC: 8:103237122 G / A
• gnomAD v2: 8-103237122-G-A
• gnomAD v3: 8-102224894-G-A
• gnomAD v4: 8-102224894-G-A
• MyVariant Identifiers: chr8:g.103237122G>A (hg19) ; chr8:g.102224894G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.102224894G>A , CM000670.2:g.102224894G>A	GRCh38
NC_000008.10:g.103237122G>A , CM000670.1:g.103237122G>A	GRCh37
NC_000008.9:g.103306298G>A	NCBI36
NG_016617.1:g.19225C>T , LRG_788:g.19225C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000251810.8:c.446C>T MANE Select	ENSP00000251810.3:p.Pro149Leu
ENST00000251810.7:c.446C>T	ENSP00000251810.3:p.Pro149Leu
ENST00000395912.6:c.290C>T	ENSP00000379248.2:p.Pro97Leu
ENST00000519317.5:c.49-10736C>T	ENSP00000430641.1:n.49-10736C>T
ENST00000519962.5:c.48+13933C>T	ENSP00000429140.1:n.48+13933C>T
ENST00000522368.5:c.615C>T
ENST00000522394.1:c.122+7337C>T	ENSP00000429578.1:n.122+7337C>T
ENST00000621845.1:c.284C>T	ENSP00000484318.1:p.Pro95Leu
NM_001172477.1:c.662C>T , LRG_788t1:c.662C>T	NP_001165948.1:p.Pro221Leu
NM_001172478.1:c.290C>T	NP_001165949.1:p.Pro97Leu
NM_015713.4:c.446C>T , LRG_788t2:c.446C>T	NP_056528.2:p.Pro149Leu
NM_001172478.2:c.290C>T	NP_001165949.1:p.Pro97Leu
NM_015713.5:c.446C>T MANE Select	NP_056528.2:p.Pro149Leu