Canonical Allele Identifier: CA540538040

Gene: AGXT

Linked Data

• ClinVar Variation Id: 2675032
• ClinVar RCV Id: RCV003467914
• dbSNP Id: rs1215010372
• gnomAD v2: 2-241816952-AG-A
• gnomAD v4: 2-240877535-AG-A
• MyVariant Identifiers: chr2:g.241816953del (hg19) ; chr2:g.240877536del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240877538del , CM000664.2:g.240877538del	GRCh38
NC_000002.11:g.241816955del , CM000664.1:g.241816955del	GRCh37
NC_000002.10:g.241465628del	NCBI36
NG_008005.1:g.13794del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.848del
ENST00000307503.3:c.848del
ENST00000470255.1:n.626del
NM_000030.2:c.848del
NM_000030.3:c.848del