Canonical Allele Identifier: CA371585215

Gene: RRM2B

Linked Data

• MyVariant Identifiers: chr8:g.103220376C>A (hg19) ; chr8:g.102208148C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.102208148C>A , CM000670.2:g.102208148C>A	GRCh38
NC_000008.10:g.103220376C>A , CM000670.1:g.103220376C>A	GRCh37
NC_000008.9:g.103289552C>A	NCBI36
NG_016617.1:g.35971G>T , LRG_788:g.35971G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251810.8:c.1041G>T MANE Select	ENSP00000251810.3:p.Leu347Phe
ENST00000251810.7:c.1041G>T	ENSP00000251810.3:p.Leu347Phe
ENST00000395910.6:n.428G>T
ENST00000395912.6:c.885G>T	ENSP00000379248.2:p.Leu295Phe
ENST00000519317.5:c.405G>T	ENSP00000430641.1:p.Leu135Phe
ENST00000519962.5:c.186G>T	ENSP00000429140.1:p.Leu62Phe
ENST00000522368.5:c.1210G>T
ENST00000522394.1:c.374G>T	ENSP00000429578.1:n.374G>T
ENST00000621845.1:c.879G>T	ENSP00000484318.1:p.Leu293Phe
NM_001172477.1:c.1257G>T , LRG_788t1:c.1257G>T	NP_001165948.1:p.Leu419Phe
NM_001172478.1:c.885G>T	NP_001165949.1:p.Leu295Phe
NM_015713.4:c.1041G>T , LRG_788t2:c.1041G>T	NP_056528.2:p.Leu347Phe
NM_001172478.2:c.885G>T	NP_001165949.1:p.Leu295Phe
NM_015713.5:c.1041G>T MANE Select	NP_056528.2:p.Leu347Phe