Canonical Allele Identifier: CA2209424

Gene: AGXT

Linked Data

• ClinVar Variation Id: 288249
• ClinVar RCV Id: RCV000341567 ; RCV001140245
• dbSNP Id: rs369664123
• ExAC: 2:241818170 G / A
• gnomAD v2: 2-241818170-G-A
• gnomAD v3: 2-240878753-G-A
• gnomAD v4: 2-240878753-G-A
• MyVariant Identifiers: chr2:g.241818170G>A (hg19) ; chr2:g.240878753G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240878753G>A , CM000664.2:g.240878753G>A	GRCh38
NC_000002.11:g.241818170G>A , CM000664.1:g.241818170G>A	GRCh37
NC_000002.10:g.241466843G>A	NCBI36
NG_008005.1:g.15009G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.1111G>A MANE Select	ENSP00000302620.3:p.Glu371Lys
ENST00000307503.3:c.1111G>A	ENSP00000302620.3:p.Glu371Lys
ENST00000470255.1:n.889G>A
NM_000030.2:c.1111G>A	NP_000021.1:p.Glu371Lys
NM_000030.3:c.1111G>A MANE Select	NP_000021.1:p.Glu371Lys