Canonical Allele Identifier: CA2499225487

Gene: AKT2

Linked Data

• ClinVar Variation Id: 1119261
• ClinVar RCV Id: RCV001448639
• dbSNP Id: rs2145179062
• gnomAD v4: 19-40238100-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40238100G>A , CM000681.2:g.40238100G>A	GRCh38
NC_000019.9:g.40744007G>A , CM000681.1:g.40744007G>A	GRCh37
NC_000019.8:g.45435847G>A	NCBI36
NG_012038.2:g.52259C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392038.7:c.709-9C>T MANE Select	ENSP00000375892.2:n.709-9C>T
ENST00000578615.6:c.588-9C>T
ENST00000311278.10:c.709-9C>T	ENSP00000309428.6:n.709-9C>T
ENST00000391844.8:c.*323-9C>T	ENSP00000375719.4:n.*323-9C>T
ENST00000391845.6:n.174-9C>T
ENST00000392038.6:c.709-9C>T	ENSP00000375892.2:n.709-9C>T
ENST00000424901.5:c.709-9C>T	ENSP00000399532.2:n.709-9C>T
ENST00000476266.5:n.1037-9C>T
ENST00000480878.6:n.136-9C>T
ENST00000483166.5:n.597-9C>T
ENST00000578282.5:n.102-9C>T
ENST00000578310.1:c.75-1715C>T
ENST00000578615.5:c.277-9C>T	ENSP00000463262.1:n.277-9C>T
ENST00000579047.5:c.523-9C>T	ENSP00000471369.1:n.523-9C>T
ENST00000579345.5:n.229-9C>T
ENST00000580878.1:n.366-9C>T
ENST00000584288.5:c.*323-9C>T	ENSP00000462469.1:n.*323-9C>T
ENST00000601166.5:c.453-9C>T	ENSP00000472371.1:n.453-9C>T
NM_001243027.2:c.523-9C>T	NP_001229956.1:n.523-9C>T
NM_001243028.2:c.523-9C>T	NP_001229957.1:n.523-9C>T
NM_001626.5:c.709-9C>T	NP_001617.1:n.709-9C>T
XM_011526614.1:c.709-9C>T	XP_011524916.1:n.709-9C>T
XM_011526615.1:c.709-9C>T	XP_011524917.1:n.709-9C>T
XM_011526616.1:c.709-9C>T	XP_011524918.1:n.709-9C>T
XM_011526617.1:c.709-9C>T	XP_011524919.1:n.709-9C>T
XM_011526618.1:c.709-9C>T	XP_011524920.1:n.709-9C>T
XM_011526619.1:c.709-9C>T	XP_011524921.1:n.709-9C>T
XM_011526620.1:c.709-9C>T	XP_011524922.1:n.709-9C>T
XM_011526621.1:c.709-9C>T	XP_011524923.1:n.709-9C>T
XM_011526622.1:c.709-9C>T	XP_011524924.1:n.709-9C>T
NM_001330511.1:c.709-9C>T	NP_001317440.1:n.709-9C>T
XM_011526622.2:c.709-9C>T	XP_011524924.1:n.709-9C>T
XM_017026470.2:c.709-9C>T	XP_016881959.1:n.709-9C>T
XM_024451416.1:c.709-9C>T	XP_024307184.1:n.709-9C>T
XM_024451417.1:c.709-9C>T	XP_024307185.1:n.709-9C>T
NM_001626.6:c.709-9C>T MANE Select	NP_001617.1:n.709-9C>T
NM_001243027.3:c.523-9C>T	NP_001229956.1:n.523-9C>T
NM_001243028.3:c.523-9C>T	NP_001229957.1:n.523-9C>T