Canonical Allele Identifier: CA4831182

Gene: RRM2B

Linked Data

• dbSNP Id: rs778930469
• ExAC: 8:103244428 A / G
• gnomAD v2: 8-103244428-A-G
• gnomAD v3: 8-102232200-A-G
• gnomAD v4: 8-102232200-A-G
• MyVariant Identifiers: chr8:g.103244428A>G (hg19) ; chr8:g.102232200A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.102232200A>G , CM000670.2:g.102232200A>G	GRCh38
NC_000008.10:g.103244428A>G , CM000670.1:g.103244428A>G	GRCh37
NC_000008.9:g.103313604A>G	NCBI36
NG_016617.1:g.11919T>C , LRG_788:g.11919T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251810.8:c.153T>C MANE Select	ENSP00000251810.3:p.Asp51=
ENST00000251810.7:c.153T>C	ENSP00000251810.3:p.Asp51=
ENST00000395912.6:c.49-6166T>C	ENSP00000379248.2:n.49-6166T>C
ENST00000517517.1:n.462T>C
ENST00000519317.5:c.48+6627T>C	ENSP00000430641.1:n.48+6627T>C
ENST00000519962.5:c.48+6627T>C	ENSP00000429140.1:n.48+6627T>C
ENST00000522368.5:c.322T>C
ENST00000522394.1:c.122+31T>C	ENSP00000429578.1:n.122+31T>C
ENST00000523957.1:c.*76T>C	ENSP00000427830.1:n.*76T>C
ENST00000621845.1:c.-10T>C	ENSP00000484318.1:n.-10T>C
NM_001172477.1:c.369T>C , LRG_788t1:c.369T>C	NP_001165948.1:p.Asp123=
NM_001172478.1:c.49-6166T>C	NP_001165949.1:n.49-6166T>C
NM_015713.4:c.153T>C , LRG_788t2:c.153T>C	NP_056528.2:p.Asp51=
NM_001172478.2:c.49-6166T>C	NP_001165949.1:n.49-6166T>C
NM_015713.5:c.153T>C MANE Select	NP_056528.2:p.Asp51=