Canonical Allele Identifier: CA371585222

Gene: RRM2B

Linked Data

• ClinVar Variation Id: 2710173
• ClinVar RCV Id: RCV003550304
• MyVariant Identifiers: chr8:g.103220377A>C (hg19) ; chr8:g.102208149A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.102208149A>C , CM000670.2:g.102208149A>C	GRCh38
NC_000008.10:g.103220377A>C , CM000670.1:g.103220377A>C	GRCh37
NC_000008.9:g.103289553A>C	NCBI36
NG_016617.1:g.35970T>G , LRG_788:g.35970T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000251810.8:c.1040T>G MANE Select	ENSP00000251810.3:p.Leu347Trp
ENST00000251810.7:c.1040T>G	ENSP00000251810.3:p.Leu347Trp
ENST00000395910.6:n.427T>G
ENST00000395912.6:c.884T>G	ENSP00000379248.2:p.Leu295Trp
ENST00000519317.5:c.404T>G	ENSP00000430641.1:p.Leu135Trp
ENST00000519962.5:c.185T>G	ENSP00000429140.1:p.Leu62Trp
ENST00000522368.5:c.1209T>G
ENST00000522394.1:c.373T>G	ENSP00000429578.1:n.373T>G
ENST00000621845.1:c.878T>G	ENSP00000484318.1:p.Leu293Trp
NM_001172477.1:c.1256T>G , LRG_788t1:c.1256T>G	NP_001165948.1:p.Leu419Trp
NM_001172478.1:c.884T>G	NP_001165949.1:p.Leu295Trp
NM_015713.4:c.1040T>G , LRG_788t2:c.1040T>G	NP_056528.2:p.Leu347Trp
NM_001172478.2:c.884T>G	NP_001165949.1:p.Leu295Trp
NM_015713.5:c.1040T>G MANE Select	NP_056528.2:p.Leu347Trp