Canonical Allele Identifier: CA345700

Gene: AGXT

Linked Data

• ClinVar Variation Id: 140583
• ClinVar RCV Id: RCV000128800 ; RCV000779688 ; RCV000800941 ; RCV001849312
• dbSNP Id: rs180177201
• ExAC: 2:241808307 A / AC
• gnomAD v2: 2-241808307-A-AC
• gnomAD v3: 2-240868890-A-AC
• gnomAD v4: 2-240868890-A-AC
• COSMIC: COSM1406871 ; COSM4765530
• MyVariant Identifiers: chr2:g.241808315dupC (hg19) ; chr2:g.241808308_241808309insC (hg19) ; chr2:g.241808307_241808308insC (hg19) ; chr2:g.240868898dupC (hg38) ; chr2:g.240868891_240868892insC (hg38) ; chr2:g.240868890_240868891insC (hg38)
• PubMed: PMID:10453743 ; PMID:17495019 ; PMID:20301460

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240868898dup , CM000664.2:g.240868898dup	GRCh38
NC_000002.11:g.241808315dup , CM000664.1:g.241808315dup	GRCh37
NC_000002.10:g.241456988dup	NCBI36
NG_008005.1:g.5154dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000307503.4:c.33dup MANE Select	ENSP00000302620.3:p.Lys12GlnfsTer?
ENST00000307503.3:c.33dup	ENSP00000302620.3:p.Lys12GlnfsTer?
ENST00000472436.1:n.53dup
NM_000030.2:c.33dup	NP_000021.1:p.Lys12GlnfsTer?
XR_924060.1:n.405+1342dup
NM_000030.3:c.33dup MANE Select	NP_000021.1:p.Lys12GlnfsTer?