Canonical Allele Identifier: CA633110982

Gene: AKT2

Linked Data

• dbSNP Id: rs1319794627
• gnomAD v2: 19-40791285-G-C
• gnomAD v3: 19-40285378-G-C
• gnomAD v4: 19-40285378-G-C
• MyVariant Identifiers: chr19:g.40791285G>C (hg19) ; chr19:g.40285378G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40285378G>C , CM000681.2:g.40285378G>C	GRCh38
NC_000019.9:g.40791285G>C , CM000681.1:g.40791285G>C	GRCh37
NC_000019.8:g.45483125G>C	NCBI36
NG_012038.2:g.4981C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392038.6:c.-282C>G	ENSP00000375892.2:n.-282C>G
ENST00000424901.5:c.-282C>G	ENSP00000399532.2:n.-282C>G
ENST00000578123.5:c.-85+70C>G	ENSP00000462022.1:n.-85+70C>G
NM_001243027.2:c.-431C>G	NP_001229956.1:n.-431C>G
NM_001243028.2:c.-338C>G	NP_001229957.1:n.-338C>G
NM_001626.5:c.-282C>G	NP_001617.1:n.-282C>G
XM_011526620.1:c.-85+70C>G	XP_011524922.1:n.-85+70C>G