Canonical Allele Identifier: CA275797
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 204157
ClinVar RCV Id: RCV000186364 RCV002513969
dbSNP Id: rs180177265
gnomAD v2: 2-241814622-G-A
gnomAD v4: 2-240875205-G-A
MyVariant Identifiers: chr2:g.241814622G>A (hg19) chr2:g.240875205G>A (hg38)
PubMed: PMID:17460142 PMID:17495019
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240875205G>A , CM000664.2:g.240875205G>A GRCh38
NC_000002.11:g.241814622G>A , CM000664.1:g.241814622G>A GRCh37
NC_000002.10:g.241463295G>A NCBI36
NG_008005.1:g.11461G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.776+1G>A MANE Select ENSP00000302620.3:n.776+1G>A
ENST00000307503.3:c.776+1G>A ENSP00000302620.3:n.776+1G>A
ENST00000476698.1:n.428+1G>A
NM_000030.2:c.776+1G>A NP_000021.1:n.776+1G>A
NM_000030.3:c.776+1G>A MANE Select NP_000021.1:n.776+1G>A
Search 100 bp 5'
Search 100 bp 3'