Canonical Allele Identifier: CA432027176
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 1085599
ClinVar RCV Id: RCV001403058
dbSNP Id: rs1411043880
gnomAD v2: 2-241818205-G-A
gnomAD v3: 2-240878788-G-A
gnomAD v4: 2-240878788-G-A
MyVariant Identifiers: chr2:g.241818205G>A (hg19) chr2:g.240878788G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878788G>A , CM000664.2:g.240878788G>A GRCh38
NC_000002.11:g.241818205G>A , CM000664.1:g.241818205G>A GRCh37
NC_000002.10:g.241466878G>A NCBI36
NG_008005.1:g.15044G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.1146G>A MANE Select ENSP00000302620.3:p.Ala382=
ENST00000307503.3:c.1146G>A ENSP00000302620.3:p.Ala382=
ENST00000470255.1:n.924G>A
NM_000030.2:c.1146G>A NP_000021.1:p.Ala382=
NM_000030.3:c.1146G>A MANE Select NP_000021.1:p.Ala382=
Search 100 bp 5'
Search 100 bp 3'