Canonical Allele Identifier: CA351318068
Gene: AGXT HGNC NCBI

Linked Data

gnomAD v4: 2-240875140-T-C
MyVariant Identifiers: chr2:g.241814557T>C (hg19) chr2:g.240875140T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240875140T>C , CM000664.2:g.240875140T>C GRCh38
NC_000002.11:g.241814557T>C , CM000664.1:g.241814557T>C GRCh37
NC_000002.10:g.241463230T>C NCBI36
NG_008005.1:g.11396T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.712T>C MANE Select ENSP00000302620.3:p.Phe238Leu
ENST00000307503.3:c.712T>C ENSP00000302620.3:p.Phe238Leu
ENST00000476698.1:n.364T>C
NM_000030.2:c.712T>C NP_000021.1:p.Phe238Leu
NM_000030.3:c.712T>C MANE Select NP_000021.1:p.Phe238Leu
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