Canonical Allele Identifier: CA4831111

Gene: RRM2B

Linked Data

• dbSNP Id: rs767145845
• ExAC: 8:103237107 C / T
• gnomAD v2: 8-103237107-C-T
• gnomAD v3: 8-102224879-C-T
• gnomAD v4: 8-102224879-C-T
• MyVariant Identifiers: chr8:g.103237107C>T (hg19) ; chr8:g.102224879C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.102224879C>T , CM000670.2:g.102224879C>T	GRCh38
NC_000008.10:g.103237107C>T , CM000670.1:g.103237107C>T	GRCh37
NC_000008.9:g.103306283C>T	NCBI36
NG_016617.1:g.19240G>A , LRG_788:g.19240G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000251810.8:c.455+6G>A MANE Select	ENSP00000251810.3:n.455+6G>A
ENST00000251810.7:c.455+6G>A	ENSP00000251810.3:n.455+6G>A
ENST00000395912.6:c.299+6G>A	ENSP00000379248.2:n.299+6G>A
ENST00000519317.5:c.49-10721G>A	ENSP00000430641.1:n.49-10721G>A
ENST00000519962.5:c.48+13948G>A	ENSP00000429140.1:n.48+13948G>A
ENST00000522368.5:c.624+6G>A
ENST00000522394.1:c.122+7352G>A	ENSP00000429578.1:n.122+7352G>A
ENST00000621845.1:c.293+6G>A	ENSP00000484318.1:n.293+6G>A
NM_001172477.1:c.671+6G>A , LRG_788t1:c.671+6G>A	NP_001165948.1:n.671+6G>A
NM_001172478.1:c.299+6G>A	NP_001165949.1:n.299+6G>A
NM_015713.4:c.455+6G>A , LRG_788t2:c.455+6G>A	NP_056528.2:n.455+6G>A
NM_001172478.2:c.299+6G>A	NP_001165949.1:n.299+6G>A
NM_015713.5:c.455+6G>A MANE Select	NP_056528.2:n.455+6G>A