Canonical Allele Identifier: CA2209218
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs779038897
ExAC: 2:241814563 T / A
gnomAD v2: 2-241814563-T-A
gnomAD v4: 2-240875146-T-A
MyVariant Identifiers: chr2:g.241814563T>A (hg19) chr2:g.240875146T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240875146T>A , CM000664.2:g.240875146T>A GRCh38
NC_000002.11:g.241814563T>A , CM000664.1:g.241814563T>A GRCh37
NC_000002.10:g.241463236T>A NCBI36
NG_008005.1:g.11402T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.718T>A MANE Select ENSP00000302620.3:p.Phe240Ile
ENST00000307503.3:c.718T>A ENSP00000302620.3:p.Phe240Ile
ENST00000476698.1:n.370T>A
NM_000030.2:c.718T>A NP_000021.1:p.Phe240Ile
NM_000030.3:c.718T>A MANE Select NP_000021.1:p.Phe240Ile
Search 100 bp 5'
Search 100 bp 3'