Canonical Allele Identifier: CA2209426
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs771385956
ExAC: 2:241818183 G / A
gnomAD v2: 2-241818183-G-A
gnomAD v3: 2-240878766-G-A
gnomAD v4: 2-240878766-G-A
COSMIC: COSM4660452
MyVariant Identifiers: chr2:g.241818183G>A (hg19) chr2:g.240878766G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878766G>A , CM000664.2:g.240878766G>A GRCh38
NC_000002.11:g.241818183G>A , CM000664.1:g.241818183G>A GRCh37
NC_000002.10:g.241466856G>A NCBI36
NG_008005.1:g.15022G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.1124G>A MANE Select ENSP00000302620.3:p.Arg375His
ENST00000307503.3:c.1124G>A ENSP00000302620.3:p.Arg375His
ENST00000470255.1:n.902G>A
NM_000030.2:c.1124G>A NP_000021.1:p.Arg375His
NM_000030.3:c.1124G>A MANE Select NP_000021.1:p.Arg375His
Search 100 bp 5'
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