Canonical Allele Identifier: CA351318146
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 2671858
ClinVar RCV Id: RCV003448957
MyVariant Identifiers: chr2:g.241814576T>A (hg19) chr2:g.240875159T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240875159T>A , CM000664.2:g.240875159T>A GRCh38
NC_000002.11:g.241814576T>A , CM000664.1:g.241814576T>A GRCh37
NC_000002.10:g.241463249T>A NCBI36
NG_008005.1:g.11415T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.731T>A MANE Select ENSP00000302620.3:p.Ile244Asn
ENST00000307503.3:c.731T>A ENSP00000302620.3:p.Ile244Asn
ENST00000476698.1:n.383T>A
NM_000030.2:c.731T>A NP_000021.1:p.Ile244Asn
NM_000030.3:c.731T>A MANE Select NP_000021.1:p.Ile244Asn
Search 100 bp 5'
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