Canonical Allele Identifier: CA2209162
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs780814001
ExAC: 2:241813363 TCACCCGTCCCGAGCAAAC / T
gnomAD v2: 2-241813363-TCACCCGTCCCGAGCAAAC-T
gnomAD v4: 2-240873946-TCACCCGTCCCGAGCAAAC-T
MyVariant Identifiers: chr2:g.241813364_241813381del (hg19) chr2:g.240873947_240873964del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240873952_240873969del , CM000664.2:g.240873952_240873969del GRCh38
NC_000002.11:g.241813369_241813386del , CM000664.1:g.241813369_241813386del GRCh37
NC_000002.10:g.241462042_241462059del NCBI36
NG_008005.1:g.10208_10225del

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.596-26_596-9del MANE Select ENSP00000302620.3:n.596-26_596-9del
ENST00000307503.3:c.596-26_596-9del ENSP00000302620.3:n.596-26_596-9del
ENST00000476698.1:n.332+903_332+920del
NM_000030.2:c.596-26_596-9del NP_000021.1:n.596-26_596-9del
NM_000030.3:c.596-26_596-9del MANE Select NP_000021.1:n.596-26_596-9del
Search 100 bp 5'
Search 100 bp 3'