Canonical Allele Identifier: CA371585964

Gene: RRM2B

Linked Data

• gnomAD v4: 8-102208220-G-T
• COSMIC: COSM1094382
• MyVariant Identifiers: chr8:g.103220448G>T (hg19) ; chr8:g.102208220G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.102208220G>T , CM000670.2:g.102208220G>T	GRCh38
NC_000008.10:g.103220448G>T , CM000670.1:g.103220448G>T	GRCh37
NC_000008.9:g.103289624G>T	NCBI36
NG_016617.1:g.35899C>A , LRG_788:g.35899C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000251810.8:c.969C>A MANE Select	ENSP00000251810.3:p.Phe323Leu
ENST00000251810.7:c.969C>A	ENSP00000251810.3:p.Phe323Leu
ENST00000395910.6:n.356C>A
ENST00000395912.6:c.813C>A	ENSP00000379248.2:p.Phe271Leu
ENST00000519317.5:c.333C>A	ENSP00000430641.1:p.Phe111Leu
ENST00000519962.5:c.114C>A	ENSP00000429140.1:p.Phe38Leu
ENST00000522368.5:c.1138C>A
ENST00000522394.1:c.302C>A	ENSP00000429578.1:n.302C>A
ENST00000621845.1:c.807C>A	ENSP00000484318.1:p.Phe269Leu
NM_001172477.1:c.1185C>A , LRG_788t1:c.1185C>A	NP_001165948.1:p.Phe395Leu
NM_001172478.1:c.813C>A	NP_001165949.1:p.Phe271Leu
NM_015713.4:c.969C>A , LRG_788t2:c.969C>A	NP_056528.2:p.Phe323Leu
NM_001172478.2:c.813C>A	NP_001165949.1:p.Phe271Leu
NM_015713.5:c.969C>A MANE Select	NP_056528.2:p.Phe323Leu