Canonical Allele Identifier: CA432024155
Gene: AGXT HGNC NCBI

Linked Data

gnomAD v4: 2-240874012-C-G
MyVariant Identifiers: chr2:g.241813429C>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240874012C>G , CM000664.2:g.240874012C>G GRCh38
NC_000002.11:g.241813429C>G , CM000664.1:g.241813429C>G GRCh37
NC_000002.10:g.241462102C>G NCBI36
NG_008005.1:g.10268C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.630C>G MANE Select ENSP00000302620.3:p.Ala210=
ENST00000307503.3:c.630C>G ENSP00000302620.3:p.Ala210=
ENST00000476698.1:n.332+963C>G
NM_000030.2:c.630C>G NP_000021.1:p.Ala210=
NM_000030.3:c.630C>G MANE Select NP_000021.1:p.Ala210=
Search 100 bp 5'
Search 100 bp 3'