Canonical Allele Identifier: CA275769
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 204141
ClinVar RCV Id: RCV000186348 RCV001857591
dbSNP Id: rs796052064
gnomAD v4: 2-240878075-G-A
MyVariant Identifiers: chr2:g.241817492G>A (hg19) chr2:g.240878075G>A (hg38)
PubMed: PMID:25629080
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878075G>A , CM000664.2:g.240878075G>A GRCh38
NC_000002.11:g.241817492G>A , CM000664.1:g.241817492G>A GRCh37
NC_000002.10:g.241466165G>A NCBI36
NG_008005.1:g.14331G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.996G>A MANE Select ENSP00000302620.3:p.Trp332Ter
ENST00000307503.3:c.996G>A ENSP00000302620.3:p.Trp332Ter
ENST00000470255.1:n.774G>A
NM_000030.2:c.996G>A NP_000021.1:p.Trp332Ter
NM_000030.3:c.996G>A MANE Select NP_000021.1:p.Trp332Ter
Search 100 bp 5'
Search 100 bp 3'