Canonical Allele Identifier: CA2209333
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs753112777
ExAC: 2:241817016 G / T
gnomAD v2: 2-241817016-G-T
gnomAD v3: 2-240877599-G-T
gnomAD v4: 2-240877599-G-T
MyVariant Identifiers: chr2:g.241817016G>T (hg19) chr2:g.240877599G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240877599G>T , CM000664.2:g.240877599G>T GRCh38
NC_000002.11:g.241817016G>T , CM000664.1:g.241817016G>T GRCh37
NC_000002.10:g.241465689G>T NCBI36
NG_008005.1:g.13855G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.909G>T MANE Select ENSP00000302620.3:p.Gln303His
ENST00000307503.3:c.909G>T ENSP00000302620.3:p.Gln303His
ENST00000470255.1:n.687G>T
NM_000030.2:c.909G>T NP_000021.1:p.Gln303His
NM_000030.3:c.909G>T MANE Select NP_000021.1:p.Gln303His
Search 100 bp 5'
Search 100 bp 3'