Canonical Allele Identifier: CA275599

Gene: AGXT

Linked Data

• ClinVar Variation Id: 204056
• ClinVar RCV Id: RCV000186262 ; RCV000428366 ; RCV001844077
• dbSNP Id: rs13408961
• ExAC: 2:241816990 G / A
• gnomAD v2: 2-241816990-G-A
• gnomAD v3: 2-240877573-G-A
• gnomAD v4: 2-240877573-G-A
• MyVariant Identifiers: chr2:g.241816990G>A (hg19) ; chr2:g.240877573G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240877573G>A , CM000664.2:g.240877573G>A	GRCh38
NC_000002.11:g.241816990G>A , CM000664.1:g.241816990G>A	GRCh37
NC_000002.10:g.241465663G>A	NCBI36
NG_008005.1:g.13829G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.883G>A MANE Select	ENSP00000302620.3:p.Ala295Thr
ENST00000307503.3:c.883G>A	ENSP00000302620.3:p.Ala295Thr
ENST00000470255.1:n.661G>A
NM_000030.2:c.883G>A	NP_000021.1:p.Ala295Thr
NM_000030.3:c.883G>A MANE Select	NP_000021.1:p.Ala295Thr