Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

Canonical Allele Identifier: CA882232981

Gene: AKT2 HGNC NCBI

Linked Data

dbSNP Id: rs1289679912

gnomAD v3: 19-40285448-A-T

gnomAD v4: 19-40285448-A-T

MyVariant Identifiers: chr19:g.40791355A>T (hg19) chr19:g.40285448A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40285448A>T , CM000681.2:g.40285448A>T	GRCh38
NC_000019.9:g.40791355A>T , CM000681.1:g.40791355A>T	GRCh37
NC_000019.8:g.45483195A>T	NCBI36
NG_012038.2:g.4911T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000578123.5:c.-85T>A	ENSP00000462022.1:n.-85T>A
XM_011526620.1:c.-85T>A	XP_011524922.1:n.-85T>A

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