Canonical Allele Identifier: CA995880846
Gene: AKT2 HGNC NCBI
gnomAD v3:
19:40285480 A / C
gnomAD v4:
chr19-40285480-A-C
Joint Max Group AF 0.0000501 (SAS)
Genomes Max Group AF 0.00007285 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40285480A>C , CM000681.2:g.40285480A>C GRCh38
NC_000019.9:g.40791387A>C , CM000681.1:g.40791387A>C GRCh37
NC_000019.8:g.45483227A>C NCBI36
NG_012038.2:g.4879T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000578123.5:c.-117T>G ENSP00000462022.1:n.-117T>G
XM_011526620.1:c.-117T>G XP_011524922.1:n.-117T>G
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