Canonical Allele Identifier: CA4831008

Gene: RRM2B

Linked Data

• ClinVar Variation Id: 361178
• ClinVar RCV Id: RCV000269016 ; RCV000314816 ; RCV003766075
• dbSNP Id: rs377736828
• ExAC: 8:103226315 C / T
• gnomAD v2: 8-103226315-C-T
• gnomAD v3: 8-102214087-C-T
• gnomAD v4: 8-102214087-C-T
• COSMIC: COSM3269364
• MyVariant Identifiers: chr8:g.103226315C>T (hg19) ; chr8:g.102214087C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.102214087C>T , CM000670.2:g.102214087C>T	GRCh38
NC_000008.10:g.103226315C>T , CM000670.1:g.103226315C>T	GRCh37
NC_000008.9:g.103295491C>T	NCBI36
NG_016617.1:g.30032G>A , LRG_788:g.30032G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251810.8:c.756G>A MANE Select	ENSP00000251810.3:p.Arg252=
ENST00000251810.7:c.756G>A	ENSP00000251810.3:p.Arg252=
ENST00000395910.6:n.143G>A
ENST00000395912.6:c.600G>A	ENSP00000379248.2:p.Arg200=
ENST00000519125.1:n.274G>A
ENST00000519317.5:c.120G>A	ENSP00000430641.1:p.Arg40=
ENST00000519962.5:c.49-5802G>A	ENSP00000429140.1:n.49-5802G>A
ENST00000522368.5:c.925G>A
ENST00000522394.1:c.123-1198G>A	ENSP00000429578.1:n.123-1198G>A
ENST00000621845.1:c.594G>A	ENSP00000484318.1:p.Arg198=
NM_001172477.1:c.972G>A , LRG_788t1:c.972G>A	NP_001165948.1:p.Arg324=
NM_001172478.1:c.600G>A	NP_001165949.1:p.Arg200=
NM_015713.4:c.756G>A , LRG_788t2:c.756G>A	NP_056528.2:p.Arg252=
NM_001172478.2:c.600G>A	NP_001165949.1:p.Arg200=
NM_015713.5:c.756G>A MANE Select	NP_056528.2:p.Arg252=