Canonical Allele Identifier: CA351316595
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs764315086
gnomAD v2: 2-241812448-C-G
gnomAD v4: 2-240873031-C-G
MyVariant Identifiers: chr2:g.241812448C>G (hg19) chr2:g.240873031C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240873031C>G , CM000664.2:g.240873031C>G GRCh38
NC_000002.11:g.241812448C>G , CM000664.1:g.241812448C>G GRCh37
NC_000002.10:g.241461121C>G NCBI36
NG_008005.1:g.9287C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.577C>G MANE Select ENSP00000302620.3:p.Leu193Val
ENST00000307503.3:c.577C>G ENSP00000302620.3:p.Leu193Val
ENST00000472436.1:n.597C>G
ENST00000476698.1:n.314C>G
NM_000030.2:c.577C>G NP_000021.1:p.Leu193Val
NM_000030.3:c.577C>G MANE Select NP_000021.1:p.Leu193Val
Search 100 bp 5'
Search 100 bp 3'