Canonical Allele Identifier: CA68181224
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs949198045
gnomAD v2: 2-241818576-C-G
gnomAD v3: 2-240879159-C-G
gnomAD v4: 2-240879159-C-G
MyVariant Identifiers: chr2:g.241818576C>G (hg19) chr2:g.240879159C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240879159C>G , CM000664.2:g.240879159C>G GRCh38
NC_000002.11:g.241818576C>G , CM000664.1:g.241818576C>G GRCh37
NC_000002.10:g.241467249C>G NCBI36
NG_008005.1:g.15415C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.*338C>G MANE Select ENSP00000302620.3:n.*338C>G
ENST00000470255.1:n.1295C>G
NM_000030.3:c.*338C>G MANE Select NP_000021.1:n.*338C>G
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