Canonical Allele Identifier: CA275775

Gene: AGXT

Linked Data

• ClinVar Variation Id: 204143
• ClinVar RCV Id: RCV000186350 ; RCV003556225
• dbSNP Id: rs180177155
• gnomAD v2: 2-241817503-T-A
• gnomAD v4: 2-240878086-T-A
• MyVariant Identifiers: chr2:g.241817503T>A (hg19) ; chr2:g.240878086T>A (hg38)
• PubMed: PMID:15253729 ; PMID:18448374

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240878086T>A , CM000664.2:g.240878086T>A	GRCh38
NC_000002.11:g.241817503T>A , CM000664.1:g.241817503T>A	GRCh37
NC_000002.10:g.241466176T>A	NCBI36
NG_008005.1:g.14342T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.1007T>A MANE Select	ENSP00000302620.3:p.Val336Asp
ENST00000307503.3:c.1007T>A	ENSP00000302620.3:p.Val336Asp
ENST00000470255.1:n.785T>A
NM_000030.2:c.1007T>A	NP_000021.1:p.Val336Asp
NM_000030.3:c.1007T>A MANE Select	NP_000021.1:p.Val336Asp