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: CA633110995

Gene: AKT2 HGNC NCBI

Linked Data

dbSNP Id: rs1568583463

gnomAD v2: 19-40791299-C-CCCACCCTCTGGACGGAAATA

gnomAD v3: 19-40285392-C-CCCACCCTCTGGACGGAAATA

gnomAD v4: 19-40285392-C-CCCACCCTCTGGACGGAAATA

MyVariant Identifiers: chr19:g.40791299_40791300insCCACCCTCTGGACGGAAATA (hg19) chr19:g.40285392_40285393insCCACCCTCTGGACGGAAATA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40285395_40285414dup , CM000681.2:g.40285395_40285414dup	GRCh38
NC_000019.9:g.40791302_40791321dup , CM000681.1:g.40791302_40791321dup	GRCh37
NC_000019.8:g.45483142_45483161dup	NCBI36
NG_012038.2:g.4947_4966dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000578123.5:c.-85+36_-85+55dup	ENSP00000462022.1:n.-85+36_-85+55dup
XM_011526620.1:c.-85+36_-85+55dup	XP_011524922.1:n.-85+36_-85+55dup

Search 100 bp 5'

Search 100 bp 3'