Canonical Allele Identifier: CA68181228
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs374832177
gnomAD v2: 2-241818590-C-T
gnomAD v3: 2-240879173-C-T
gnomAD v4: 2-240879173-C-T
MyVariant Identifiers: chr2:g.241818590C>T (hg19) chr2:g.240879173C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240879173C>T , CM000664.2:g.240879173C>T GRCh38
NC_000002.11:g.241818590C>T , CM000664.1:g.241818590C>T GRCh37
NC_000002.10:g.241467263C>T NCBI36
NG_008005.1:g.15429C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.*352C>T MANE Select ENSP00000302620.3:n.*352C>T
ENST00000470255.1:n.1309C>T
NM_000030.3:c.*352C>T MANE Select NP_000021.1:n.*352C>T
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