Canonical Allele Identifier: CA2209229

Gene: AGXT

Linked Data

• ClinVar Variation Id: 2064669
• ClinVar RCV Id: RCV002953597
• dbSNP Id: rs547633289
• ExAC: 2:241814608 G / A
• gnomAD v2: 2-241814608-G-A
• gnomAD v3: 2-240875191-G-A
• gnomAD v4: 2-240875191-G-A
• MyVariant Identifiers: chr2:g.241814608G>A (hg19) ; chr2:g.240875191G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240875191G>A , CM000664.2:g.240875191G>A	GRCh38
NC_000002.11:g.241814608G>A , CM000664.1:g.241814608G>A	GRCh37
NC_000002.10:g.241463281G>A	NCBI36
NG_008005.1:g.11447G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.763G>A MANE Select	ENSP00000302620.3:p.Asp255Asn
ENST00000307503.3:c.763G>A	ENSP00000302620.3:p.Asp255Asn
ENST00000476698.1:n.415G>A
NM_000030.2:c.763G>A	NP_000021.1:p.Asp255Asn
NM_000030.3:c.763G>A MANE Select	NP_000021.1:p.Asp255Asn