Canonical Allele Identifier: CA343786
Gene: AGXT HGNC NCBI
COSMIC:
COSM4986441 (not active)
MyVariant.info:
GRCh38 chr2:g.240878099A>G
GRCh37 chr2:g.241817516A>G
Revel Score:
ENST00000307503 (MANE Select) 0.274
gnomAD v2:
2:241817516 A / G
gnomAD v3:
2:240878099 A / G
gnomAD v4:
chr2-240878099-A-G
Joint Max Group AF 0.20848807 (NFE)
Genomes Max Group AF 0.20094132 (NFE)
Exomes Max Group AF 0.2087968 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878099A>G , CM000664.2:g.240878099A>G GRCh38
NC_000002.11:g.241817516A>G , CM000664.1:g.241817516A>G GRCh37
NC_000002.10:g.241466189A>G NCBI36
NG_008005.1:g.14355A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.1020A>G MANE Select ENSP00000302620.3:p.Ile340Met
ENST00000307503.3:c.1020A>G ENSP00000302620.3:p.Ile340Met
ENST00000470255.1:n.798A>G
NM_000030.2:c.1020A>G NP_000021.1:p.Ile340Met
NM_000030.3:c.1020A>G MANE Select NP_000021.1:p.Ile340Met
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