Canonical Allele Identifier: CA371590284
Gene: RRM2B HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.102218894A>G , CM000670.2:g.102218894A>G GRCh38
NC_000008.10:g.103231122A>G , CM000670.1:g.103231122A>G GRCh37
NC_000008.9:g.103300298A>G NCBI36
NG_016617.1:g.25225T>C , LRG_788:g.25225T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000251810.8:c.604T>C MANE Select ENSP00000251810.3:p.Phe202Leu
ENST00000251810.7:c.604T>C ENSP00000251810.3:p.Phe202Leu
ENST00000395912.6:c.448T>C ENSP00000379248.2:p.Phe150Leu
ENST00000519125.1:n.122T>C
ENST00000519317.5:c.49-4736T>C ENSP00000430641.1:n.49-4736T>C
ENST00000519962.5:c.49-10609T>C ENSP00000429140.1:n.49-10609T>C
ENST00000522368.5:c.773T>C
ENST00000522394.1:c.123-6005T>C ENSP00000429578.1:n.123-6005T>C
ENST00000621845.1:c.442T>C ENSP00000484318.1:p.Phe148Leu
NM_001172477.1:c.820T>C , LRG_788t1:c.820T>C NP_001165948.1:p.Phe274Leu
NM_001172478.1:c.448T>C NP_001165949.1:p.Phe150Leu
NM_015713.4:c.604T>C , LRG_788t2:c.604T>C NP_056528.2:p.Phe202Leu
NM_001172478.2:c.448T>C NP_001165949.1:p.Phe150Leu
NM_015713.5:c.604T>C MANE Select NP_056528.2:p.Phe202Leu