Canonical Allele Identifier: CA2209428
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 2523265
ClinVar RCV Id: RCV003265813
dbSNP Id: rs759836341
ExAC: 2:241818185 G / A
gnomAD v2: 2-241818185-G-A
gnomAD v3: 2-240878768-G-A
gnomAD v4: 2-240878768-G-A
MyVariant Identifiers: chr2:g.241818185G>A (hg19) chr2:g.240878768G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878768G>A , CM000664.2:g.240878768G>A GRCh38
NC_000002.11:g.241818185G>A , CM000664.1:g.241818185G>A GRCh37
NC_000002.10:g.241466858G>A NCBI36
NG_008005.1:g.15024G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.1126G>A MANE Select ENSP00000302620.3:p.Val376Met
ENST00000307503.3:c.1126G>A ENSP00000302620.3:p.Val376Met
ENST00000470255.1:n.904G>A
NM_000030.2:c.1126G>A NP_000021.1:p.Val376Met
NM_000030.3:c.1126G>A MANE Select NP_000021.1:p.Val376Met
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