Canonical Allele Identifier: CA4830957

Gene: RRM2B

Linked Data

• ClinVar Variation Id: 1906954
• ClinVar RCV Id: RCV002577867
• dbSNP Id: rs760466367
• ExAC: 8:103220387 C / T
• gnomAD v2: 8-103220387-C-T
• gnomAD v3: 8-102208159-C-T
• gnomAD v4: 8-102208159-C-T
• COSMIC: COSM5952268
• MyVariant Identifiers: chr8:g.103220387C>T (hg19) ; chr8:g.102208159C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.102208159C>T , CM000670.2:g.102208159C>T	GRCh38
NC_000008.10:g.103220387C>T , CM000670.1:g.103220387C>T	GRCh37
NC_000008.9:g.103289563C>T	NCBI36
NG_016617.1:g.35960G>A , LRG_788:g.35960G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251810.8:c.1030G>A MANE Select	ENSP00000251810.3:p.Val344Ile
ENST00000251810.7:c.1030G>A	ENSP00000251810.3:p.Val344Ile
ENST00000395910.6:n.417G>A
ENST00000395912.6:c.874G>A	ENSP00000379248.2:p.Val292Ile
ENST00000519317.5:c.394G>A	ENSP00000430641.1:p.Val132Ile
ENST00000519962.5:c.175G>A	ENSP00000429140.1:p.Val59Ile
ENST00000522368.5:c.1199G>A
ENST00000522394.1:c.363G>A	ENSP00000429578.1:n.363G>A
ENST00000621845.1:c.868G>A	ENSP00000484318.1:p.Val290Ile
NM_001172477.1:c.1246G>A , LRG_788t1:c.1246G>A	NP_001165948.1:p.Val416Ile
NM_001172478.1:c.874G>A	NP_001165949.1:p.Val292Ile
NM_015713.4:c.1030G>A , LRG_788t2:c.1030G>A	NP_056528.2:p.Val344Ile
NM_001172478.2:c.874G>A	NP_001165949.1:p.Val292Ile
NM_015713.5:c.1030G>A MANE Select	NP_056528.2:p.Val344Ile