Canonical Allele Identifier: CA9441889
Community Standard Title: NM_001626.6(AKT2):c.430C>T (p.Arg144Trp)
Gene: AKT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40242545G>A , CM000681.2:g.40242545G>A GRCh38
NC_000019.9:g.40748452G>A , CM000681.1:g.40748452G>A GRCh37
NC_000019.8:g.45440292G>A NCBI36
NG_012038.2:g.47814C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001626.6:c.430C>T MANE Select NP_001617.1:p.Arg144Trp
ENST00000392038.7:c.430C>T MANE Select ENSP00000375892.2:p.Arg144Trp
NM_001243027.2:c.244C>T NP_001229956.1:p.Arg82Trp
NM_001243027.3:c.244C>T NP_001229956.1:p.Arg82Trp
NM_001243028.2:c.244C>T NP_001229957.1:p.Arg82Trp
NM_001243028.3:c.244C>T NP_001229957.1:p.Arg82Trp
NM_001330511.1:c.430C>T NP_001317440.1:p.Arg144Trp
NM_001626.5:c.430C>T NP_001617.1:p.Arg144Trp
ENST00000311278.10:c.430C>T ENSP00000309428.6:p.Arg144Trp
ENST00000391844.8:c.*44C>T ENSP00000375719.4:n.*44C>T
ENST00000392038.6:c.430C>T ENSP00000375892.2:p.Arg144Trp
ENST00000424901.5:c.430C>T ENSP00000399532.2:p.Arg144Trp
ENST00000441941.6:c.430C>T ENSP00000396968.2:p.Arg144Trp
ENST00000476266.5:n.758C>T
ENST00000486368.6:c.430C>T ENSP00000463686.1:p.Arg144Trp
ENST00000487537.2:n.255C>T
ENST00000487537.3:n.535C>T
ENST00000491778.6:c.389C>T
ENST00000492463.6:c.*44C>T ENSP00000462776.1:n.*44C>T
ENST00000537834.5:n.738C>T
ENST00000578615.5:c.64C>T ENSP00000463262.1:p.Arg22Trp
ENST00000578615.6:c.375C>T
ENST00000578975.1:n.1583C>T
ENST00000579047.5:c.244C>T ENSP00000471369.1:p.Arg82Trp
ENST00000584288.5:c.*44C>T ENSP00000462469.1:n.*44C>T
ENST00000596634.5:c.430C>T ENSP00000470604.1:p.Arg144Trp
ENST00000601166.5:c.163C>T ENSP00000472371.1:p.Arg55Trp
ENST00000672879.1:n.572C>T
XM_011526614.1:c.430C>T XP_011524916.1:p.Arg144Trp
XM_011526615.1:c.430C>T XP_011524917.1:p.Arg144Trp
XM_011526616.1:c.430C>T XP_011524918.1:p.Arg144Trp
XM_011526617.1:c.430C>T XP_011524919.1:p.Arg144Trp
XM_011526618.1:c.430C>T XP_011524920.1:p.Arg144Trp
XM_011526619.1:c.430C>T XP_011524921.1:p.Arg144Trp
XM_011526620.1:c.430C>T XP_011524922.1:p.Arg144Trp
XM_011526621.1:c.430C>T XP_011524923.1:p.Arg144Trp
XM_011526622.1:c.430C>T XP_011524924.1:p.Arg144Trp
XM_011526622.2:c.430C>T XP_011524924.1:p.Arg144Trp
XM_017026470.2:c.430C>T XP_016881959.1:p.Arg144Trp
XM_024451416.1:c.430C>T XP_024307184.1:p.Arg144Trp
XM_024451417.1:c.430C>T XP_024307185.1:p.Arg144Trp