Canonical Allele Identifier: CA432024439
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 2803328
ClinVar RCV Id: RCV003679457
MyVariant Identifiers: chr2:g.241814619G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240875202G>A , CM000664.2:g.240875202G>A GRCh38
NC_000002.11:g.241814619G>A , CM000664.1:g.241814619G>A GRCh37
NC_000002.10:g.241463292G>A NCBI36
NG_008005.1:g.11458G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.774G>A MANE Select ENSP00000302620.3:p.Arg258=
ENST00000307503.3:c.774G>A ENSP00000302620.3:p.Arg258=
ENST00000476698.1:n.426G>A
NM_000030.2:c.774G>A NP_000021.1:p.Arg258=
NM_000030.3:c.774G>A MANE Select NP_000021.1:p.Arg258=