Canonical Allele Identifier: CA319782

Gene: RRM2B

Linked Data

• ClinVar Variation Id: 215089
• ClinVar RCV Id: RCV000195448 ; RCV001328923
• dbSNP Id: rs863224190
• gnomAD v4: 8-102224121-T-C
• MyVariant Identifiers: chr8:g.103236349T>C (hg19) ; chr8:g.102224121T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.102224121T>C , CM000670.2:g.102224121T>C	GRCh38
NC_000008.10:g.103236349T>C , CM000670.1:g.103236349T>C	GRCh37
NC_000008.9:g.103305525T>C	NCBI36
NG_016617.1:g.19998A>G , LRG_788:g.19998A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251810.8:c.475A>G MANE Select	ENSP00000251810.3:p.Ile159Val
ENST00000251810.7:c.475A>G	ENSP00000251810.3:p.Ile159Val
ENST00000395912.6:c.319A>G	ENSP00000379248.2:p.Ile107Val
ENST00000519317.5:c.49-9963A>G	ENSP00000430641.1:n.49-9963A>G
ENST00000519962.5:c.48+14706A>G	ENSP00000429140.1:n.48+14706A>G
ENST00000522368.5:c.644A>G
ENST00000522394.1:c.122+8110A>G	ENSP00000429578.1:n.122+8110A>G
ENST00000621845.1:c.313A>G	ENSP00000484318.1:p.Ile105Val
NM_001172477.1:c.691A>G , LRG_788t1:c.691A>G	NP_001165948.1:p.Ile231Val
NM_001172478.1:c.319A>G	NP_001165949.1:p.Ile107Val
NM_015713.4:c.475A>G , LRG_788t2:c.475A>G	NP_056528.2:p.Ile159Val
NM_001172478.2:c.319A>G	NP_001165949.1:p.Ile107Val
NM_015713.5:c.475A>G MANE Select	NP_056528.2:p.Ile159Val