Canonical Allele Identifier: CA9441585

Gene: AKT2

Linked Data

• ClinVar Variation Id: 733770
• ClinVar RCV Id: RCV002542103
• dbSNP Id: rs41309435
• ExAC: 19:40741862 C / T
• gnomAD v2: 19-40741862-C-T
• gnomAD v3: 19-40235955-C-T
• gnomAD v4: 19-40235955-C-T
• MyVariant Identifiers: chr19:g.40741862C>T (hg19) ; chr19:g.40235955C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40235955C>T , CM000681.2:g.40235955C>T	GRCh38
NC_000019.9:g.40741862C>T , CM000681.1:g.40741862C>T	GRCh37
NC_000019.8:g.45433702C>T	NCBI36
NG_012038.2:g.54404G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000392038.7:c.1110G>A MANE Select	ENSP00000375892.2:p.Pro370=
ENST00000578615.6:c.989G>A
ENST00000311278.10:c.981G>A	ENSP00000309428.6:p.Pro327=
ENST00000391844.8:c.*724G>A	ENSP00000375719.4:n.*724G>A
ENST00000391845.6:n.575G>A
ENST00000392038.6:c.1110G>A	ENSP00000375892.2:p.Pro370=
ENST00000424901.5:c.981G>A	ENSP00000399532.2:p.Pro327=
ENST00000476247.6:c.117G>A	ENSP00000463368.1:p.Pro39=
ENST00000476266.5:n.1438G>A
ENST00000483166.5:n.2581G>A
ENST00000489375.5:c.77G>A
ENST00000496089.6:n.529G>A
ENST00000497948.5:c.4G>A
ENST00000578615.5:c.678G>A	ENSP00000463262.1:p.Pro226=
ENST00000579047.5:c.924G>A	ENSP00000471369.1:p.Pro308=
ENST00000584288.5:c.*724G>A	ENSP00000462469.1:n.*724G>A
NM_001243027.2:c.924G>A	NP_001229956.1:p.Pro308=
NM_001243028.2:c.924G>A	NP_001229957.1:p.Pro308=
NM_001626.5:c.1110G>A	NP_001617.1:p.Pro370=
XM_011526614.1:c.1110G>A	XP_011524916.1:p.Pro370=
XM_011526615.1:c.1110G>A	XP_011524917.1:p.Pro370=
XM_011526616.1:c.1110G>A	XP_011524918.1:p.Pro370=
XM_011526617.1:c.1110G>A	XP_011524919.1:p.Pro370=
XM_011526618.1:c.1110G>A	XP_011524920.1:p.Pro370=
XM_011526619.1:c.1110G>A	XP_011524921.1:p.Pro370=
XM_011526620.1:c.1110G>A	XP_011524922.1:p.Pro370=
XM_011526621.1:c.1110G>A	XP_011524923.1:p.Pro370=
XM_011526622.1:c.1110G>A	XP_011524924.1:p.Pro370=
NM_001330511.1:c.981G>A	NP_001317440.1:p.Pro327=
XM_011526622.2:c.1110G>A	XP_011524924.1:p.Pro370=
XM_017026470.2:c.1110G>A	XP_016881959.1:p.Pro370=
XM_024451416.1:c.1110G>A	XP_024307184.1:p.Pro370=
XM_024451417.1:c.981G>A	XP_024307185.1:p.Pro327=
NM_001626.6:c.1110G>A MANE Select	NP_001617.1:p.Pro370=
NM_001243027.3:c.924G>A	NP_001229956.1:p.Pro308=
NM_001243028.3:c.924G>A	NP_001229957.1:p.Pro308=