Canonical Allele Identifier: CA351317076
Gene: AGXT HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.241813471C>G (hg19) chr2:g.240874054C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240874054C>G , CM000664.2:g.240874054C>G GRCh38
NC_000002.11:g.241813471C>G , CM000664.1:g.241813471C>G GRCh37
NC_000002.10:g.241462144C>G NCBI36
NG_008005.1:g.10310C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.672C>G MANE Select ENSP00000302620.3:p.Asp224Glu
ENST00000307503.3:c.672C>G ENSP00000302620.3:p.Asp224Glu
ENST00000476698.1:n.332+1005C>G
NM_000030.2:c.672C>G NP_000021.1:p.Asp224Glu
NM_000030.3:c.672C>G MANE Select NP_000021.1:p.Asp224Glu
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