Canonical Allele Identifier: CA275792

Gene: AGXT

Linked Data

• ClinVar Variation Id: 204152
• ClinVar RCV Id: RCV000186359 ; RCV001384604
• dbSNP Id: rs113681235
• ExAC: 2:241808781 T / G
• gnomAD v2: 2-241808781-T-G
• gnomAD v4: 2-240869364-T-G
• MyVariant Identifiers: chr2:g.241808781T>G (hg19) ; chr2:g.240869364T>G (hg38)
• PubMed: PMID:19479957

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240869364T>G , CM000664.2:g.240869364T>G	GRCh38
NC_000002.11:g.241808781T>G , CM000664.1:g.241808781T>G	GRCh37
NC_000002.10:g.241457454T>G	NCBI36
NG_008005.1:g.5620T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.358+2T>G MANE Select	ENSP00000302620.3:n.358+2T>G
ENST00000307503.3:c.358+2T>G	ENSP00000302620.3:n.358+2T>G
ENST00000472436.1:n.378+2T>G
NM_000030.2:c.358+2T>G	NP_000021.1:n.358+2T>G
XR_924060.1:n.405+869A>C
NM_000030.3:c.358+2T>G MANE Select	NP_000021.1:n.358+2T>G