Canonical Allele Identifier: CA273942

Gene: AGXT

Linked Data

• ClinVar Variation Id: 188775
• ClinVar RCV Id: RCV000169102 ; RCV000794507
• dbSNP Id: rs180177201
• ExAC: 2:241808307 AC / A
• gnomAD v2: 2-241808307-AC-A
• gnomAD v3: 2-240868890-AC-A
• gnomAD v4: 2-240868890-AC-A
• COSMIC: COSM1406872
• MyVariant Identifiers: chr2:g.241808315del (hg19) ; chr2:g.241808308del (hg19) ; chr2:g.240868898del (hg38) ; chr2:g.240868891del (hg38)
• PubMed: PMID:10453743 ; PMID:11562405 ; PMID:15963748 ; PMID:16850020 ; PMID:17495019

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000307503.4:c.33del MANE Select	ENSP00000302620.3:p.Lys12ArgfsTer?
ENST00000307503.3:c.33del	ENSP00000302620.3:p.Lys12ArgfsTer?
ENST00000472436.1:n.53del
NM_000030.2:c.33del	NP_000021.1:p.Lys12ArgfsTer?
XR_924060.1:n.405+1342del
NM_000030.3:c.33del MANE Select	NP_000021.1:p.Lys12ArgfsTer?