Canonical Allele Identifier: CA371593161

Gene: RRM2B

Linked Data

• ClinVar Variation Id: 2683026
• ClinVar RCV Id: RCV003481893
• dbSNP Id: rs1262428013
• gnomAD v2: 8-103237216-G-A
• gnomAD v4: 8-102224988-G-A
• MyVariant Identifiers: chr8:g.103237216G>A (hg19) ; chr8:g.102224988G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.102224988G>A , CM000670.2:g.102224988G>A	GRCh38
NC_000008.10:g.103237216G>A , CM000670.1:g.103237216G>A	GRCh37
NC_000008.9:g.103306392G>A	NCBI36
NG_016617.1:g.19131C>T , LRG_788:g.19131C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000251810.8:c.352C>T MANE Select	ENSP00000251810.3:p.Pro118Ser
ENST00000251810.7:c.352C>T	ENSP00000251810.3:p.Pro118Ser
ENST00000395912.6:c.196C>T	ENSP00000379248.2:p.Pro66Ser
ENST00000519317.5:c.49-10830C>T	ENSP00000430641.1:n.49-10830C>T
ENST00000519962.5:c.48+13839C>T	ENSP00000429140.1:n.48+13839C>T
ENST00000522368.5:c.521C>T
ENST00000522394.1:c.122+7243C>T	ENSP00000429578.1:n.122+7243C>T
ENST00000523957.1:c.*275C>T	ENSP00000427830.1:n.*275C>T
ENST00000621845.1:c.190C>T	ENSP00000484318.1:p.Pro64Ser
NM_001172477.1:c.568C>T , LRG_788t1:c.568C>T	NP_001165948.1:p.Pro190Ser
NM_001172478.1:c.196C>T	NP_001165949.1:p.Pro66Ser
NM_015713.4:c.352C>T , LRG_788t2:c.352C>T	NP_056528.2:p.Pro118Ser
NM_001172478.2:c.196C>T	NP_001165949.1:p.Pro66Ser
NM_015713.5:c.352C>T MANE Select	NP_056528.2:p.Pro118Ser