Canonical Allele Identifier: CA68179247
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 2671871
ClinVar RCV Id: RCV003448970 RCV004364712
dbSNP Id: rs1017611176
gnomAD v3: 2-240873980-A-G
gnomAD v4: 2-240873980-A-G
MyVariant Identifiers: chr2:g.241813397A>G (hg19) chr2:g.240873980A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240873980A>G , CM000664.2:g.240873980A>G GRCh38
NC_000002.11:g.241813397A>G , CM000664.1:g.241813397A>G GRCh37
NC_000002.10:g.241462070A>G NCBI36
NG_008005.1:g.10236A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.598A>G MANE Select ENSP00000302620.3:p.Ile200Val
ENST00000307503.3:c.598A>G ENSP00000302620.3:p.Ile200Val
ENST00000476698.1:n.332+931A>G
NM_000030.2:c.598A>G NP_000021.1:p.Ile200Val
NM_000030.3:c.598A>G MANE Select NP_000021.1:p.Ile200Val
Search 100 bp 5'
Search 100 bp 3'