Canonical Allele Identifier: CA9441601
Community Standard Title: NM_001626.6(AKT2):c.1039C>T (p.Arg347Cys)
Gene: AKT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40236026G>A , CM000681.2:g.40236026G>A GRCh38
NC_000019.9:g.40741933G>A , CM000681.1:g.40741933G>A GRCh37
NC_000019.8:g.45433773G>A NCBI36
NG_012038.2:g.54333C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001626.6:c.1039C>T MANE Select NP_001617.1:p.Arg347Cys
ENST00000392038.7:c.1039C>T MANE Select ENSP00000375892.2:p.Arg347Cys
NM_001243027.2:c.853C>T NP_001229956.1:p.Arg285Cys
NM_001243027.3:c.853C>T NP_001229956.1:p.Arg285Cys
NM_001243028.2:c.853C>T NP_001229957.1:p.Arg285Cys
NM_001243028.3:c.853C>T NP_001229957.1:p.Arg285Cys
NM_001330511.1:c.910C>T NP_001317440.1:p.Arg304Cys
NM_001626.5:c.1039C>T NP_001617.1:p.Arg347Cys
ENST00000311278.10:c.910C>T ENSP00000309428.6:p.Arg304Cys
ENST00000391844.8:c.*653C>T ENSP00000375719.4:n.*653C>T
ENST00000391845.6:n.504C>T
ENST00000392038.6:c.1039C>T ENSP00000375892.2:p.Arg347Cys
ENST00000424901.5:c.910C>T ENSP00000399532.2:p.Arg304Cys
ENST00000476247.6:c.46C>T ENSP00000463368.1:p.Arg16Cys
ENST00000476266.5:n.1367C>T
ENST00000480878.6:n.504C>T
ENST00000483166.5:n.2510C>T
ENST00000486647.5:n.455C>T
ENST00000489375.5:c.6C>T
ENST00000496089.6:n.458C>T
ENST00000578282.5:n.303C>T
ENST00000578615.5:c.607C>T ENSP00000463262.1:p.Arg203Cys
ENST00000578615.6:c.918C>T
ENST00000579047.5:c.853C>T ENSP00000471369.1:p.Arg285Cys
ENST00000579345.5:n.559C>T
ENST00000584288.5:c.*653C>T ENSP00000462469.1:n.*653C>T
XM_011526614.1:c.1039C>T XP_011524916.1:p.Arg347Cys
XM_011526615.1:c.1039C>T XP_011524917.1:p.Arg347Cys
XM_011526616.1:c.1039C>T XP_011524918.1:p.Arg347Cys
XM_011526617.1:c.1039C>T XP_011524919.1:p.Arg347Cys
XM_011526618.1:c.1039C>T XP_011524920.1:p.Arg347Cys
XM_011526619.1:c.1039C>T XP_011524921.1:p.Arg347Cys
XM_011526620.1:c.1039C>T XP_011524922.1:p.Arg347Cys
XM_011526621.1:c.1039C>T XP_011524923.1:p.Arg347Cys
XM_011526622.1:c.1039C>T XP_011524924.1:p.Arg347Cys
XM_011526622.2:c.1039C>T XP_011524924.1:p.Arg347Cys
XM_017026470.2:c.1039C>T XP_016881959.1:p.Arg347Cys
XM_024451416.1:c.1039C>T XP_024307184.1:p.Arg347Cys
XM_024451417.1:c.910C>T XP_024307185.1:p.Arg304Cys