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: CA275854

Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 204201

ClinVar RCV Id: RCV000186408 RCV000780823

dbSNP Id: rs180177273

ExAC: 2:241815390 T / TGA

gnomAD v2: 2-241815390-T-TGA

gnomAD v4: 2-240875973-T-TGA

MyVariant Identifiers: chr2:g.241815398_241815399dupAG (hg19) chr2:g.241815392_241815393insGA (hg19) chr2:g.241815390_241815391insGA (hg19) chr2:g.240875981_240875982dupAG (hg38) chr2:g.240875975_240875976insGA (hg38) chr2:g.240875973_240875974insGA (hg38)

PubMed: PMID:15365967

JSON-LD

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240875981_240875982dup , CM000664.2:g.240875981_240875982dup	GRCh38
NC_000002.11:g.241815398_241815399dup , CM000664.1:g.241815398_241815399dup	GRCh37
NC_000002.10:g.241464071_241464072dup	NCBI36
NG_008005.1:g.12237_12238dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000307503.4:c.823_824dup MANE Select	ENSP00000302620.3:p.Ser275ArgfsTer?
ENST00000307503.3:c.823_824dup	ENSP00000302620.3:p.Ser275ArgfsTer?
ENST00000476698.1:n.475_476dup
NM_000030.2:c.823_824dup	NP_000021.1:p.Ser275ArgfsTer?
NM_000030.3:c.823_824dup MANE Select	NP_000021.1:p.Ser275ArgfsTer?

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