Canonical Allele Identifier: CA371585268

Gene: RRM2B

Linked Data

• MyVariant Identifiers: chr8:g.103220387C>A (hg19) ; chr8:g.102208159C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.102208159C>A , CM000670.2:g.102208159C>A	GRCh38
NC_000008.10:g.103220387C>A , CM000670.1:g.103220387C>A	GRCh37
NC_000008.9:g.103289563C>A	NCBI36
NG_016617.1:g.35960G>T , LRG_788:g.35960G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251810.8:c.1030G>T MANE Select	ENSP00000251810.3:p.Val344Phe
ENST00000251810.7:c.1030G>T	ENSP00000251810.3:p.Val344Phe
ENST00000395910.6:n.417G>T
ENST00000395912.6:c.874G>T	ENSP00000379248.2:p.Val292Phe
ENST00000519317.5:c.394G>T	ENSP00000430641.1:p.Val132Phe
ENST00000519962.5:c.175G>T	ENSP00000429140.1:p.Val59Phe
ENST00000522368.5:c.1199G>T
ENST00000522394.1:c.363G>T	ENSP00000429578.1:n.363G>T
ENST00000621845.1:c.868G>T	ENSP00000484318.1:p.Val290Phe
NM_001172477.1:c.1246G>T , LRG_788t1:c.1246G>T	NP_001165948.1:p.Val416Phe
NM_001172478.1:c.874G>T	NP_001165949.1:p.Val292Phe
NM_015713.4:c.1030G>T , LRG_788t2:c.1030G>T	NP_056528.2:p.Val344Phe
NM_001172478.2:c.874G>T	NP_001165949.1:p.Val292Phe
NM_015713.5:c.1030G>T MANE Select	NP_056528.2:p.Val344Phe