Canonical Allele Identifier: CA213025

Gene: RRM2B

Linked Data

• ClinVar Variation Id: 30432
• ClinVar RCV Id: RCV000023385 ; RCV000119013 ; RCV000508947
• dbSNP Id: rs515726199
• gnomAD v4: 8-102208238-TA-T
• MyVariant Identifiers: chr8:g.103220467del (hg19) ; chr8:g.102208239del (hg38)
• PubMed: PMID:21646632 ; PMID:24741716 ; PMID:28812649

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.102208241del , CM000670.2:g.102208241del	GRCh38
NC_000008.10:g.103220469del , CM000670.1:g.103220469del	GRCh37
NC_000008.9:g.103289645del	NCBI36
NG_016617.1:g.35880del , LRG_788:g.35880del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251810.8:c.950del MANE Select	ENSP00000251810.3:p.Leu317Ter
ENST00000251810.7:c.950del	ENSP00000251810.3:p.Leu317Ter
ENST00000395910.6:n.337del
ENST00000395912.6:c.794del	ENSP00000379248.2:p.Leu265Ter
ENST00000519317.5:c.314del	ENSP00000430641.1:p.Leu105Ter
ENST00000519962.5:c.95del	ENSP00000429140.1:p.Leu32Ter
ENST00000522368.5:c.1119del
ENST00000522394.1:c.283del	ENSP00000429578.1:n.283del
ENST00000621845.1:c.788del	ENSP00000484318.1:p.Leu263Ter
NM_001172477.1:c.1166del , LRG_788t1:c.1166del	NP_001165948.1:p.Leu389Ter
NM_001172478.1:c.794del	NP_001165949.1:p.Leu265Ter
NM_015713.4:c.950del , LRG_788t2:c.950del	NP_056528.2:p.Leu317Ter
NM_001172478.2:c.794del	NP_001165949.1:p.Leu265Ter
NM_015713.5:c.950del MANE Select	NP_056528.2:p.Leu317Ter