Canonical Allele Identifier: CA432026976
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 1658747
ClinVar RCV Id: RCV002176001
dbSNP Id: rs2106432392
gnomAD v4: 2-240878731-G-T
MyVariant Identifiers: chr2:g.241818148G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878731G>T , CM000664.2:g.240878731G>T GRCh38
NC_000002.11:g.241818148G>T , CM000664.1:g.241818148G>T GRCh37
NC_000002.10:g.241466821G>T NCBI36
NG_008005.1:g.14987G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.1089G>T MANE Select ENSP00000302620.3:p.Leu363=
ENST00000307503.3:c.1089G>T ENSP00000302620.3:p.Leu363=
ENST00000470255.1:n.867G>T
NM_000030.2:c.1089G>T NP_000021.1:p.Leu363=
NM_000030.3:c.1089G>T MANE Select NP_000021.1:p.Leu363=
Search 100 bp 5'
Search 100 bp 3'