Canonical Allele Identifier: CA4831180
Community Standard Title: NM_015713.5(RRM2B):c.162A>G (p.Lys54=)
Gene: RRM2B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.102232191T>C , CM000670.2:g.102232191T>C GRCh38
NC_000008.10:g.103244419T>C , CM000670.1:g.103244419T>C GRCh37
NC_000008.9:g.103313595T>C NCBI36
NG_016617.1:g.11928A>G , LRG_788:g.11928A>G

Transcript Alleles

HGVS Amino-acid Change
NM_015713.5:c.162A>G MANE Select NP_056528.2:p.Lys54=
ENST00000251810.8:c.162A>G MANE Select ENSP00000251810.3:p.Lys54=
NM_001172477.1:c.378A>G , LRG_788t1:c.378A>G NP_001165948.1:p.Lys126=
NM_001172478.1:c.49-6157A>G NP_001165949.1:n.49-6157A>G
NM_001172478.2:c.49-6157A>G NP_001165949.1:n.49-6157A>G
NM_015713.4:c.162A>G , LRG_788t2:c.162A>G NP_056528.2:p.Lys54=
ENST00000251810.7:c.162A>G ENSP00000251810.3:p.Lys54=
ENST00000395912.6:c.49-6157A>G ENSP00000379248.2:n.49-6157A>G
ENST00000517517.1:n.471A>G
ENST00000519317.5:c.48+6636A>G ENSP00000430641.1:n.48+6636A>G
ENST00000519962.5:c.48+6636A>G ENSP00000429140.1:n.48+6636A>G
ENST00000522368.5:c.331A>G
ENST00000522394.1:c.122+40A>G ENSP00000429578.1:n.122+40A>G
ENST00000523957.1:c.*85A>G ENSP00000427830.1:n.*85A>G
ENST00000621845.1:c.-1A>G ENSP00000484318.1:n.-1A>G