Canonical Allele Identifier: CA4831044
Community Standard Title: NM_015713.5(RRM2B):c.613A>G (p.Ile205Val)
Gene: RRM2B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.102218885T>C , CM000670.2:g.102218885T>C GRCh38
NC_000008.10:g.103231113T>C , CM000670.1:g.103231113T>C GRCh37
NC_000008.9:g.103300289T>C NCBI36
NG_016617.1:g.25234A>G , LRG_788:g.25234A>G

Transcript Alleles

HGVS Amino-acid Change
NM_015713.5:c.613A>G MANE Select NP_056528.2:p.Ile205Val
ENST00000251810.8:c.613A>G MANE Select ENSP00000251810.3:p.Ile205Val
NM_001172477.1:c.829A>G , LRG_788t1:c.829A>G NP_001165948.1:p.Ile277Val
NM_001172478.1:c.457A>G NP_001165949.1:p.Ile153Val
NM_001172478.2:c.457A>G NP_001165949.1:p.Ile153Val
NM_015713.4:c.613A>G , LRG_788t2:c.613A>G NP_056528.2:p.Ile205Val
ENST00000251810.7:c.613A>G ENSP00000251810.3:p.Ile205Val
ENST00000395912.6:c.457A>G ENSP00000379248.2:p.Ile153Val
ENST00000519125.1:n.131A>G
ENST00000519317.5:c.49-4727A>G ENSP00000430641.1:n.49-4727A>G
ENST00000519962.5:c.49-10600A>G ENSP00000429140.1:n.49-10600A>G
ENST00000522368.5:c.782A>G
ENST00000522394.1:c.123-5996A>G ENSP00000429578.1:n.123-5996A>G
ENST00000621845.1:c.451A>G ENSP00000484318.1:p.Ile151Val