Canonical Allele Identifier: CA123659
Gene: AKT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 13982
ClinVar RCV Id: RCV000015016 RCV003231106
dbSNP Id: rs121434593
gnomAD v2: 19-40743886-C-T
MyVariant Identifiers: chr19:g.40743886C>T (hg19) chr19:g.40237979C>T (hg38)
PubMed: PMID:15166380 PMID:19164855
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40237979C>T , CM000681.2:g.40237979C>T GRCh38
NC_000019.9:g.40743886C>T , CM000681.1:g.40743886C>T GRCh37
NC_000019.8:g.45435726C>T NCBI36
NG_012038.2:g.52380G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000392038.7:c.821G>A MANE Select ENSP00000375892.2:p.Arg274His
ENST00000578615.6:c.700G>A
ENST00000311278.10:c.821G>A ENSP00000309428.6:p.Arg274His
ENST00000391844.8:c.*435G>A ENSP00000375719.4:n.*435G>A
ENST00000391845.6:n.286G>A
ENST00000392038.6:c.821G>A ENSP00000375892.2:p.Arg274His
ENST00000424901.5:c.821G>A ENSP00000399532.2:p.Arg274His
ENST00000476266.5:n.1149G>A
ENST00000480878.6:n.248G>A
ENST00000483166.5:n.709G>A
ENST00000496089.6:n.88G>A
ENST00000578282.5:n.214G>A
ENST00000578310.1:c.75-1594G>A
ENST00000578615.5:c.389G>A ENSP00000463262.1:p.Arg130His
ENST00000579047.5:c.635G>A ENSP00000471369.1:p.Arg212His
ENST00000579345.5:n.341G>A
ENST00000580878.1:n.478G>A
ENST00000584288.5:c.*435G>A ENSP00000462469.1:n.*435G>A
NM_001243027.2:c.635G>A NP_001229956.1:p.Arg212His
NM_001243028.2:c.635G>A NP_001229957.1:p.Arg212His
NM_001626.5:c.821G>A NP_001617.1:p.Arg274His
XM_011526614.1:c.821G>A XP_011524916.1:p.Arg274His
XM_011526615.1:c.821G>A XP_011524917.1:p.Arg274His
XM_011526616.1:c.821G>A XP_011524918.1:p.Arg274His
XM_011526617.1:c.821G>A XP_011524919.1:p.Arg274His
XM_011526618.1:c.821G>A XP_011524920.1:p.Arg274His
XM_011526619.1:c.821G>A XP_011524921.1:p.Arg274His
XM_011526620.1:c.821G>A XP_011524922.1:p.Arg274His
XM_011526621.1:c.821G>A XP_011524923.1:p.Arg274His
XM_011526622.1:c.821G>A XP_011524924.1:p.Arg274His
NM_001330511.1:c.821G>A NP_001317440.1:p.Arg274His
XM_011526622.2:c.821G>A XP_011524924.1:p.Arg274His
XM_017026470.2:c.821G>A XP_016881959.1:p.Arg274His
XM_024451416.1:c.821G>A XP_024307184.1:p.Arg274His
XM_024451417.1:c.821G>A XP_024307185.1:p.Arg274His
NM_001626.6:c.821G>A MANE Select NP_001617.1:p.Arg274His
NM_001243027.3:c.635G>A NP_001229956.1:p.Arg212His
NM_001243028.3:c.635G>A NP_001229957.1:p.Arg212His
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