Canonical Allele Identifier: CA371585344

Gene: RRM2B

Linked Data

• ClinVar Variation Id: 1031935
• ClinVar RCV Id: RCV001333887
• dbSNP Id: rs1425182214
• gnomAD v2: 8-103220395-G-C
• gnomAD v4: 8-102208167-G-C
• MyVariant Identifiers: chr8:g.103220395G>C (hg19) ; chr8:g.102208167G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.102208167G>C , CM000670.2:g.102208167G>C	GRCh38
NC_000008.10:g.103220395G>C , CM000670.1:g.103220395G>C	GRCh37
NC_000008.9:g.103289571G>C	NCBI36
NG_016617.1:g.35952C>G , LRG_788:g.35952C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251810.8:c.1022C>G MANE Select	ENSP00000251810.3:p.Thr341Arg
ENST00000251810.7:c.1022C>G	ENSP00000251810.3:p.Thr341Arg
ENST00000395910.6:n.409C>G
ENST00000395912.6:c.866C>G	ENSP00000379248.2:p.Thr289Arg
ENST00000519317.5:c.386C>G	ENSP00000430641.1:p.Thr129Arg
ENST00000519962.5:c.167C>G	ENSP00000429140.1:p.Thr56Arg
ENST00000522368.5:c.1191C>G
ENST00000522394.1:c.355C>G	ENSP00000429578.1:n.355C>G
ENST00000621845.1:c.860C>G	ENSP00000484318.1:p.Thr287Arg
NM_001172477.1:c.1238C>G , LRG_788t1:c.1238C>G	NP_001165948.1:p.Thr413Arg
NM_001172478.1:c.866C>G	NP_001165949.1:p.Thr289Arg
NM_015713.4:c.1022C>G , LRG_788t2:c.1022C>G	NP_056528.2:p.Thr341Arg
NM_001172478.2:c.866C>G	NP_001165949.1:p.Thr289Arg
NM_015713.5:c.1022C>G MANE Select	NP_056528.2:p.Thr341Arg