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: CA633111013

Gene: AKT2 HGNC NCBI

Linked Data

dbSNP Id: rs1293887226

gnomAD v2: 19-40791371-ACT-A

gnomAD v3: 19-40285464-ACT-A

gnomAD v4: 19-40285464-ACT-A

MyVariant Identifiers: chr19:g.40791372_40791373del (hg19) chr19:g.40285465_40285466del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40285467_40285468del , CM000681.2:g.40285467_40285468del	GRCh38
NC_000019.9:g.40791374_40791375del , CM000681.1:g.40791374_40791375del	GRCh37
NC_000019.8:g.45483214_45483215del	NCBI36
NG_012038.2:g.4893_4894del

Transcript Alleles

HGVS	Amino-acid change
ENST00000578123.5:c.-103_-102del	ENSP00000462022.1:n.-103_-102del
XM_011526620.1:c.-103_-102del	XP_011524922.1:n.-103_-102del

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