Canonical Allele Identifier: CA68181239
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs898850099
gnomAD v4: 2-240879203-C-G
MyVariant Identifiers: chr2:g.241818620C>G (hg19) chr2:g.240879203C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240879203C>G , CM000664.2:g.240879203C>G GRCh38
NC_000002.11:g.241818620C>G , CM000664.1:g.241818620C>G GRCh37
NC_000002.10:g.241467293C>G NCBI36
NG_008005.1:g.15459C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.*382C>G MANE Select ENSP00000302620.3:n.*382C>G
ENST00000470255.1:n.1339C>G
NM_000030.3:c.*382C>G MANE Select NP_000021.1:n.*382C>G
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