Canonical Allele Identifier: CA432027094
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs528663088
gnomAD v2: 2-241818184-C-A
gnomAD v4: 2-240878767-C-A
MyVariant Identifiers: chr2:g.241818184C>A (hg19) chr2:g.240878767C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878767C>A , CM000664.2:g.240878767C>A GRCh38
NC_000002.11:g.241818184C>A , CM000664.1:g.241818184C>A GRCh37
NC_000002.10:g.241466857C>A NCBI36
NG_008005.1:g.15023C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.1125C>A MANE Select ENSP00000302620.3:p.Arg375=
ENST00000307503.3:c.1125C>A ENSP00000302620.3:p.Arg375=
ENST00000470255.1:n.903C>A
NM_000030.2:c.1125C>A NP_000021.1:p.Arg375=
NM_000030.3:c.1125C>A MANE Select NP_000021.1:p.Arg375=
Search 100 bp 5'
Search 100 bp 3'