Canonical Allele Identifier: CA278605

Gene: RRM2B

Linked Data

• ClinVar Variation Id: 30436
• ClinVar RCV Id: RCV000023389 ; RCV000118993 ; RCV001852021 ; RCV002283445
• dbSNP Id: rs387906892
• ExAC: 8:103244484 G / A
• gnomAD v2: 8-103244484-G-A
• gnomAD v4: 8-102232256-G-A
• MyVariant Identifiers: chr8:g.103244484G>A (hg19) ; chr8:g.102232256G>A (hg38)
• PubMed: PMID:21951382 ; PMID:24741716

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.102232256G>A , CM000670.2:g.102232256G>A	GRCh38
NC_000008.10:g.103244484G>A , CM000670.1:g.103244484G>A	GRCh37
NC_000008.9:g.103313660G>A	NCBI36
NG_016617.1:g.11863C>T , LRG_788:g.11863C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251810.8:c.97C>T MANE Select	ENSP00000251810.3:p.Pro33Ser
ENST00000251810.7:c.97C>T	ENSP00000251810.3:p.Pro33Ser
ENST00000395912.6:c.49-6222C>T	ENSP00000379248.2:n.49-6222C>T
ENST00000517517.1:n.406C>T
ENST00000519317.5:c.48+6571C>T	ENSP00000430641.1:n.48+6571C>T
ENST00000519962.5:c.48+6571C>T	ENSP00000429140.1:n.48+6571C>T
ENST00000522368.5:c.266C>T
ENST00000522394.1:c.97C>T	ENSP00000429578.1:p.Pro33Ser
ENST00000523957.1:c.*20C>T	ENSP00000427830.1:n.*20C>T
ENST00000621845.1:c.-66C>T	ENSP00000484318.1:n.-66C>T
NM_001172477.1:c.313C>T , LRG_788t1:c.313C>T	NP_001165948.1:p.Pro105Ser
NM_001172478.1:c.49-6222C>T	NP_001165949.1:n.49-6222C>T
NM_015713.4:c.97C>T , LRG_788t2:c.97C>T	NP_056528.2:p.Pro33Ser
NM_001172478.2:c.49-6222C>T	NP_001165949.1:n.49-6222C>T
NM_015713.5:c.97C>T MANE Select	NP_056528.2:p.Pro33Ser