Canonical Allele Identifier: CA371593165

Gene: RRM2B

Linked Data

• gnomAD v4: 8-102224988-G-C
• MyVariant Identifiers: chr8:g.103237216G>C (hg19) ; chr8:g.102224988G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.102224988G>C , CM000670.2:g.102224988G>C	GRCh38
NC_000008.10:g.103237216G>C , CM000670.1:g.103237216G>C	GRCh37
NC_000008.9:g.103306392G>C	NCBI36
NG_016617.1:g.19131C>G , LRG_788:g.19131C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000251810.8:c.352C>G MANE Select	ENSP00000251810.3:p.Pro118Ala
ENST00000251810.7:c.352C>G	ENSP00000251810.3:p.Pro118Ala
ENST00000395912.6:c.196C>G	ENSP00000379248.2:p.Pro66Ala
ENST00000519317.5:c.49-10830C>G	ENSP00000430641.1:n.49-10830C>G
ENST00000519962.5:c.48+13839C>G	ENSP00000429140.1:n.48+13839C>G
ENST00000522368.5:c.521C>G
ENST00000522394.1:c.122+7243C>G	ENSP00000429578.1:n.122+7243C>G
ENST00000523957.1:c.*275C>G	ENSP00000427830.1:n.*275C>G
ENST00000621845.1:c.190C>G	ENSP00000484318.1:p.Pro64Ala
NM_001172477.1:c.568C>G , LRG_788t1:c.568C>G	NP_001165948.1:p.Pro190Ala
NM_001172478.1:c.196C>G	NP_001165949.1:p.Pro66Ala
NM_015713.4:c.352C>G , LRG_788t2:c.352C>G	NP_056528.2:p.Pro118Ala
NM_001172478.2:c.196C>G	NP_001165949.1:p.Pro66Ala
NM_015713.5:c.352C>G MANE Select	NP_056528.2:p.Pro118Ala