Canonical Allele Identifier: CA4830960

Gene: RRM2B

Linked Data

• dbSNP Id: rs756893244
• ExAC: 8:103220461 C / G
• gnomAD v2: 8-103220461-C-G
• gnomAD v4: 8-102208233-C-G
• MyVariant Identifiers: chr8:g.103220461C>G (hg19) ; chr8:g.102208233C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.102208233C>G , CM000670.2:g.102208233C>G	GRCh38
NC_000008.10:g.103220461C>G , CM000670.1:g.103220461C>G	GRCh37
NC_000008.9:g.103289637C>G	NCBI36
NG_016617.1:g.35886G>C , LRG_788:g.35886G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251810.8:c.956G>C MANE Select	ENSP00000251810.3:p.Gly319Ala
ENST00000251810.7:c.956G>C	ENSP00000251810.3:p.Gly319Ala
ENST00000395910.6:n.343G>C
ENST00000395912.6:c.800G>C	ENSP00000379248.2:p.Gly267Ala
ENST00000519317.5:c.320G>C	ENSP00000430641.1:p.Gly107Ala
ENST00000519962.5:c.101G>C	ENSP00000429140.1:p.Gly34Ala
ENST00000522368.5:c.1125G>C
ENST00000522394.1:c.289G>C	ENSP00000429578.1:n.289G>C
ENST00000621845.1:c.794G>C	ENSP00000484318.1:p.Gly265Ala
NM_001172477.1:c.1172G>C , LRG_788t1:c.1172G>C	NP_001165948.1:p.Gly391Ala
NM_001172478.1:c.800G>C	NP_001165949.1:p.Gly267Ala
NM_015713.4:c.956G>C , LRG_788t2:c.956G>C	NP_056528.2:p.Gly319Ala
NM_001172478.2:c.800G>C	NP_001165949.1:p.Gly267Ala
NM_015713.5:c.956G>C MANE Select	NP_056528.2:p.Gly319Ala