Canonical Allele Identifier: CA2209055
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 2974911
ClinVar RCV Id: RCV003838533
dbSNP Id: rs755236674
ExAC: 2:241808772 G / A
gnomAD v2: 2-241808772-G-A
gnomAD v4: 2-240869355-G-A
MyVariant Identifiers: chr2:g.241808772G>A (hg19) chr2:g.240869355G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869355G>A , CM000664.2:g.240869355G>A GRCh38
NC_000002.11:g.241808772G>A , CM000664.1:g.241808772G>A GRCh37
NC_000002.10:g.241457445G>A NCBI36
NG_008005.1:g.5611G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.351G>A MANE Select ENSP00000302620.3:p.Glu117=
ENST00000307503.3:c.351G>A ENSP00000302620.3:p.Glu117=
ENST00000472436.1:n.371G>A
NM_000030.2:c.351G>A NP_000021.1:p.Glu117=
XR_924060.1:n.405+878C>T
NM_000030.3:c.351G>A MANE Select NP_000021.1:p.Glu117=
Search 100 bp 5'
Search 100 bp 3'