Canonical Allele Identifier: CA308416286

Gene: AKT2

Linked Data

• dbSNP Id: rs887134757
• gnomAD v2: 19-40791233-G-A
• gnomAD v3: 19-40285326-G-A
• gnomAD v4: 19-40285326-G-A
• MyVariant Identifiers: chr19:g.40791233G>A (hg19) ; chr19:g.40285326G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40285326G>A , CM000681.2:g.40285326G>A	GRCh38
NC_000019.9:g.40791233G>A , CM000681.1:g.40791233G>A	GRCh37
NC_000019.8:g.45483073G>A	NCBI36
NG_012038.2:g.5033C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392038.7:c.-230C>T MANE Select	ENSP00000375892.2:n.-230C>T
ENST00000391844.8:c.-276C>T	ENSP00000375719.4:n.-276C>T
ENST00000392038.6:c.-230C>T	ENSP00000375892.2:n.-230C>T
ENST00000424901.5:c.-230C>T	ENSP00000399532.2:n.-230C>T
ENST00000578123.5:c.-85+122C>T	ENSP00000462022.1:n.-85+122C>T
ENST00000579047.5:c.-286C>T	ENSP00000471369.1:n.-286C>T
ENST00000584288.5:c.-369C>T	ENSP00000462469.1:n.-369C>T
NM_001243027.2:c.-379C>T	NP_001229956.1:n.-379C>T
NM_001243028.2:c.-286C>T	NP_001229957.1:n.-286C>T
NM_001626.5:c.-230C>T	NP_001617.1:n.-230C>T
XM_011526620.1:c.-85+122C>T	XP_011524922.1:n.-85+122C>T
XM_011526622.1:c.-230C>T	XP_011524924.1:n.-230C>T
XM_011526622.2:c.-230C>T	XP_011524924.1:n.-230C>T
XM_024451417.1:c.-230C>T	XP_024307185.1:n.-230C>T
NM_001626.6:c.-230C>T MANE Select	NP_001617.1:n.-230C>T
NM_001243027.3:c.-379C>T	NP_001229956.1:n.-379C>T
NM_001243028.3:c.-286C>T	NP_001229957.1:n.-286C>T