Canonical Allele Identifier: CA4831184
Community Standard Title: NM_015713.5(RRM2B):c.119G>A (p.Arg40His)
Gene: RRM2B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.102232234C>T , CM000670.2:g.102232234C>T GRCh38
NC_000008.10:g.103244462C>T , CM000670.1:g.103244462C>T GRCh37
NC_000008.9:g.103313638C>T NCBI36
NG_016617.1:g.11885G>A , LRG_788:g.11885G>A

Transcript Alleles

HGVS Amino-acid Change
NM_015713.5:c.119G>A MANE Select NP_056528.2:p.Arg40His
ENST00000251810.8:c.119G>A MANE Select ENSP00000251810.3:p.Arg40His
NM_001172477.1:c.335G>A , LRG_788t1:c.335G>A NP_001165948.1:p.Arg112His
NM_001172478.1:c.49-6200G>A NP_001165949.1:n.49-6200G>A
NM_001172478.2:c.49-6200G>A NP_001165949.1:n.49-6200G>A
NM_015713.4:c.119G>A , LRG_788t2:c.119G>A NP_056528.2:p.Arg40His
ENST00000251810.7:c.119G>A ENSP00000251810.3:p.Arg40His
ENST00000395912.6:c.49-6200G>A ENSP00000379248.2:n.49-6200G>A
ENST00000517517.1:n.428G>A
ENST00000519317.5:c.48+6593G>A ENSP00000430641.1:n.48+6593G>A
ENST00000519962.5:c.48+6593G>A ENSP00000429140.1:n.48+6593G>A
ENST00000522368.5:c.288G>A
ENST00000522394.1:c.119G>A ENSP00000429578.1:p.Arg40His
ENST00000523957.1:c.*42G>A ENSP00000427830.1:n.*42G>A
ENST00000621845.1:c.-44G>A ENSP00000484318.1:n.-44G>A