Canonical Allele Identifier: CA204014

Gene: RRM2B

Linked Data

• ClinVar Variation Id: 132109
• ClinVar RCV Id: RCV000005720 ; RCV000118988 ; RCV000186558 ; RCV000413797 ; RCV002483199
• dbSNP Id: rs515726184
• ExAC: 8:103238211 TCTC / T
• gnomAD v2: 8-103238211-TCTC-T
• gnomAD v3: 8-102225983-TCTC-T
• gnomAD v4: 8-102225983-TCTC-T
• MyVariant Identifiers: chr8:g.103238212_103238214del (hg19) ; chr8:g.102225984_102225986del (hg38)
• PubMed: PMID:17486094 ; PMID:21378381 ; PMID:24741716

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.102225984_102225986del , CM000670.2:g.102225984_102225986del	GRCh38
NC_000008.10:g.103238212_103238214del , CM000670.1:g.103238212_103238214del	GRCh37
NC_000008.9:g.103307388_103307390del	NCBI36
NG_016617.1:g.18133_18135del , LRG_788:g.18133_18135del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251810.8:c.253_255del MANE Select	ENSP00000251810.3:p.Glu85del
ENST00000251810.7:c.253_255del	ENSP00000251810.3:p.Glu85del
ENST00000395912.6:c.97_99del	ENSP00000379248.2:p.Glu33del
ENST00000517517.1:n.562_564del
ENST00000519317.5:c.49-11828_49-11826del	ENSP00000430641.1:n.49-11828_49-11826del
ENST00000519962.5:c.48+12841_48+12843del	ENSP00000429140.1:n.48+12841_48+12843del
ENST00000522368.5:c.422_424del
ENST00000522394.1:c.122+6245_122+6247del	ENSP00000429578.1:n.122+6245_122+6247del
ENST00000523957.1:c.*176_*178del	ENSP00000427830.1:n.*176_*178del
ENST00000621845.1:c.91_93del	ENSP00000484318.1:p.Glu31del
NM_001172477.1:c.469_471del , LRG_788t1:c.469_471del	NP_001165948.1:p.Glu157del
NM_001172478.1:c.97_99del	NP_001165949.1:p.Glu33del
NM_015713.4:c.253_255del , LRG_788t2:c.253_255del	NP_056528.2:p.Glu85del
NM_001172478.2:c.97_99del	NP_001165949.1:p.Glu33del
NM_015713.5:c.253_255del MANE Select	NP_056528.2:p.Glu85del