Canonical Allele Identifier: CA4830950

Gene: RRM2B

Linked Data

• dbSNP Id: rs199946278
• ExAC: 8:103220338 A / G
• gnomAD v2: 8-103220338-A-G
• gnomAD v3: 8-102208110-A-G
• gnomAD v4: 8-102208110-A-G
• MyVariant Identifiers: chr8:g.103220338A>G (hg19) ; chr8:g.102208110A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.102208110A>G , CM000670.2:g.102208110A>G	GRCh38
NC_000008.10:g.103220338A>G , CM000670.1:g.103220338A>G	GRCh37
NC_000008.9:g.103289514A>G	NCBI36
NG_016617.1:g.36009T>C , LRG_788:g.36009T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000251810.8:c.*23T>C MANE Select	ENSP00000251810.3:n.*23T>C
ENST00000251810.7:c.*23T>C	ENSP00000251810.3:n.*23T>C
ENST00000395910.6:n.466T>C
ENST00000522368.5:c.1248T>C
ENST00000621845.1:c.*23T>C	ENSP00000484318.1:n.*23T>C
NM_001172477.1:c.*23T>C , LRG_788t1:c.*23T>C	NP_001165948.1:n.*23T>C
NM_001172478.1:c.*23T>C	NP_001165949.1:n.*23T>C
NM_015713.4:c.*23T>C , LRG_788t2:c.*23T>C	NP_056528.2:n.*23T>C
NM_001172478.2:c.*23T>C	NP_001165949.1:n.*23T>C
NM_015713.5:c.*23T>C MANE Select	NP_056528.2:n.*23T>C