Canonical Allele Identifier: CA540535901
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs1432031099
gnomAD v2: 2-241812777-A-T
gnomAD v3: 2-240873360-A-T
gnomAD v4: 2-240873360-A-T
MyVariant Identifiers: chr2:g.241812777A>T (hg19) chr2:g.240873360A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240873360A>T , CM000664.2:g.240873360A>T GRCh38
NC_000002.11:g.241812777A>T , CM000664.1:g.241812777A>T GRCh37
NC_000002.10:g.241461450A>T NCBI36
NG_008005.1:g.9616A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.595+311A>T MANE Select ENSP00000302620.3:n.595+311A>T
ENST00000307503.3:c.595+311A>T ENSP00000302620.3:n.595+311A>T
ENST00000472436.1:n.926A>T
ENST00000476698.1:n.332+311A>T
NM_000030.2:c.595+311A>T NP_000021.1:n.595+311A>T
NM_000030.3:c.595+311A>T MANE Select NP_000021.1:n.595+311A>T
Search 100 bp 5'
Search 100 bp 3'