Canonical Allele Identifier: CA2209313
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs751179174
ExAC: 2:241816835 C / G
gnomAD v2: 2-241816835-C-G
gnomAD v4: 2-240877418-C-G
MyVariant Identifiers: chr2:g.241816835C>G (hg19) chr2:g.240877418C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240877418C>G , CM000664.2:g.240877418C>G GRCh38
NC_000002.11:g.241816835C>G , CM000664.1:g.241816835C>G GRCh37
NC_000002.10:g.241465508C>G NCBI36
NG_008005.1:g.13674C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.847-119C>G MANE Select ENSP00000302620.3:n.847-119C>G
ENST00000307503.3:c.847-119C>G ENSP00000302620.3:n.847-119C>G
ENST00000470255.1:n.506C>G
NM_000030.2:c.847-119C>G NP_000021.1:n.847-119C>G
NM_000030.3:c.847-119C>G MANE Select NP_000021.1:n.847-119C>G
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