Canonical Allele Identifier: CA2209431
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 1136382
ClinVar RCV Id: RCV001472027
dbSNP Id: rs764214047
ExAC: 2:241818202 G / A
gnomAD v2: 2-241818202-G-A
gnomAD v3: 2-240878785-G-A
gnomAD v4: 2-240878785-G-A
COSMIC: COSM5396645
MyVariant Identifiers: chr2:g.241818202G>A (hg19) chr2:g.240878785G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878785G>A , CM000664.2:g.240878785G>A GRCh38
NC_000002.11:g.241818202G>A , CM000664.1:g.241818202G>A GRCh37
NC_000002.10:g.241466875G>A NCBI36
NG_008005.1:g.15041G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.1143G>A MANE Select ENSP00000302620.3:p.Arg381=
ENST00000307503.3:c.1143G>A ENSP00000302620.3:p.Arg381=
ENST00000470255.1:n.921G>A
NM_000030.2:c.1143G>A NP_000021.1:p.Arg381=
NM_000030.3:c.1143G>A MANE Select NP_000021.1:p.Arg381=
Search 100 bp 5'
Search 100 bp 3'