Canonical Allele Identifier: CA275865
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 204211
ClinVar RCV Id: RCV000186418
dbSNP Id: rs796052075
MyVariant Identifiers: chr2:g.241818169_241818170del (hg19) chr2:g.240878752_240878753del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878752_240878753del , CM000664.2:g.240878752_240878753del GRCh38
NC_000002.11:g.241818169_241818170del , CM000664.1:g.241818169_241818170del GRCh37
NC_000002.10:g.241466842_241466843del NCBI36
NG_008005.1:g.15008_15009del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.1110_1111del MANE Select ENSP00000302620.3:p.Asn372CysfsTer?
ENST00000307503.3:c.1110_1111del ENSP00000302620.3:p.Asn372CysfsTer?
ENST00000470255.1:n.888_889del
NM_000030.2:c.1110_1111del NP_000021.1:p.Asn372CysfsTer?
NM_000030.3:c.1110_1111del MANE Select NP_000021.1:p.Asn372CysfsTer?
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