Canonical Allele Identifier: CA633110972
Gene: AKT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3234532
ClinVar RCV Id: RCV004546385
dbSNP Id: rs1214040248
gnomAD v2: 19-40791264-C-CGCCCCCTCCCCCCA
gnomAD v3: 19-40285357-C-CGCCCCCTCCCCCCA
gnomAD v4: 19-40285357-C-CGCCCCCTCCCCCCA
MyVariant Identifiers: chr19:g.40791265_40791266insCCCCCTCCCCCCAG (hg19) chr19:g.40791264_40791265insGCCCCCTCCCCCCA (hg19) chr19:g.40285358_40285359insCCCCCTCCCCCCAG (hg38) chr19:g.40285357_40285358insGCCCCCTCCCCCCA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40285364_40285377dup , CM000681.2:g.40285364_40285377dup GRCh38
NC_000019.9:g.40791271_40791284dup , CM000681.1:g.40791271_40791284dup GRCh37
NC_000019.8:g.45483111_45483124dup NCBI36
NG_012038.2:g.4988_5001dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000392038.6:c.-275_-262dup ENSP00000375892.2:n.-275_-262dup
ENST00000424901.5:c.-275_-262dup ENSP00000399532.2:n.-275_-262dup
ENST00000578123.5:c.-85+77_-85+90dup ENSP00000462022.1:n.-85+77_-85+90dup
NM_001243027.2:c.-424_-411dup NP_001229956.1:n.-424_-411dup
NM_001243028.2:c.-331_-318dup NP_001229957.1:n.-331_-318dup
NM_001626.5:c.-275_-262dup NP_001617.1:n.-275_-262dup
XM_011526620.1:c.-85+77_-85+90dup XP_011524922.1:n.-85+77_-85+90dup
Search 100 bp 5'
Search 100 bp 3'