Canonical Allele Identifier: CA275861
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 204208
ClinVar RCV Id: RCV000186415
dbSNP Id: rs796052074
gnomAD v4: 2-240878035-CCA-C
MyVariant Identifiers: chr2:g.241817455_241817456del (hg19) chr2:g.240878038_240878039del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878038_240878039del , CM000664.2:g.240878038_240878039del GRCh38
NC_000002.11:g.241817455_241817456del , CM000664.1:g.241817455_241817456del GRCh37
NC_000002.10:g.241466128_241466129del NCBI36
NG_008005.1:g.14294_14295del

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.959_960del MANE Select ENSP00000302620.3:p.Thr320SerfsTer11
ENST00000307503.3:c.959_960del ENSP00000302620.3:p.Thr320SerfsTer11
ENST00000470255.1:n.737_738del
NM_000030.2:c.959_960del NP_000021.1:p.Thr320SerfsTer11
NM_000030.3:c.959_960del MANE Select NP_000021.1:p.Thr320SerfsTer11
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