Canonical Allele Identifier: CA351318225
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs1187022212
gnomAD v3: 2-240875182-G-A
gnomAD v4: 2-240875182-G-A
MyVariant Identifiers: chr2:g.241814599G>A (hg19) chr2:g.240875182G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240875182G>A , CM000664.2:g.240875182G>A GRCh38
NC_000002.11:g.241814599G>A , CM000664.1:g.241814599G>A GRCh37
NC_000002.10:g.241463272G>A NCBI36
NG_008005.1:g.11438G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.754G>A MANE Select ENSP00000302620.3:p.Gly252Ser
ENST00000307503.3:c.754G>A ENSP00000302620.3:p.Gly252Ser
ENST00000476698.1:n.406G>A
NM_000030.2:c.754G>A NP_000021.1:p.Gly252Ser
NM_000030.3:c.754G>A MANE Select NP_000021.1:p.Gly252Ser
Search 100 bp 5'
Search 100 bp 3'