Canonical Allele Identifier: CA275855
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 204203
ClinVar RCV Id: RCV000186410
dbSNP Id: rs180177276
MyVariant Identifiers: chr2:g.241815409del (hg19) chr2:g.240875992del (hg38)
PubMed: PMID:19479957
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240875992del , CM000664.2:g.240875992del GRCh38
NC_000002.11:g.241815409del , CM000664.1:g.241815409del GRCh37
NC_000002.10:g.241464082del NCBI36
NG_008005.1:g.12248del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.834del MANE Select ENSP00000302620.3:p.Ile279LeufsTer?
ENST00000307503.3:c.834del ENSP00000302620.3:p.Ile279LeufsTer?
ENST00000476698.1:n.486del
NM_000030.2:c.834del NP_000021.1:p.Ile279LeufsTer?
NM_000030.3:c.834del MANE Select NP_000021.1:p.Ile279LeufsTer?
Search 100 bp 5'
Search 100 bp 3'