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: CA995878795

Gene: AKT2 HGNC NCBI

Linked Data

dbSNP Id: rs2077499314

gnomAD v3: 19-40285419-T-G

gnomAD v4: 19-40285419-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40285419T>G , CM000681.2:g.40285419T>G	GRCh38
NC_000019.9:g.40791326T>G , CM000681.1:g.40791326T>G	GRCh37
NC_000019.8:g.45483166T>G	NCBI36
NG_012038.2:g.4940A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000578123.5:c.-85+29A>C	ENSP00000462022.1:n.-85+29A>C
XM_011526620.1:c.-85+29A>C	XP_011524922.1:n.-85+29A>C

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