Canonical Allele Identifier: CA2209029

Gene: AGXT

Linked Data

• ClinVar Variation Id: 950757
• ClinVar RCV Id: RCV001222536 ; RCV001833929
• dbSNP Id: rs774651961
• ExAC: 2:241808593 G / A
• gnomAD v2: 2-241808593-G-A
• gnomAD v3: 2-240869176-G-A
• gnomAD v4: 2-240869176-G-A
• MyVariant Identifiers: chr2:g.241808593G>A (hg19) ; chr2:g.240869176G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240869176G>A , CM000664.2:g.240869176G>A	GRCh38
NC_000002.11:g.241808593G>A , CM000664.1:g.241808593G>A	GRCh37
NC_000002.10:g.241457266G>A	NCBI36
NG_008005.1:g.5432G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000307503.4:c.172G>A MANE Select	ENSP00000302620.3:p.Asp58Asn
ENST00000307503.3:c.172G>A	ENSP00000302620.3:p.Asp58Asn
ENST00000472436.1:n.192G>A
NM_000030.2:c.172G>A	NP_000021.1:p.Asp58Asn
XR_924060.1:n.405+1057C>T
NM_000030.3:c.172G>A MANE Select	NP_000021.1:p.Asp58Asn