Canonical Allele Identifier: CA275737

Gene: AGXT

Linked Data

• ClinVar Variation Id: 204127
• ClinVar RCV Id: RCV000186333
• dbSNP Id: rs180177269
• gnomAD v2: 2-241815358-T-A
• gnomAD v3: 2-240875941-T-A
• gnomAD v4: 2-240875941-T-A
• MyVariant Identifiers: chr2:g.241815358T>A (hg19) ; chr2:g.240875941T>A (hg38)
• PubMed: PMID:17460142 ; PMID:22923379

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240875941T>A , CM000664.2:g.240875941T>A	GRCh38
NC_000002.11:g.241815358T>A , CM000664.1:g.241815358T>A	GRCh37
NC_000002.10:g.241464031T>A	NCBI36
NG_008005.1:g.12197T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.783T>A MANE Select	ENSP00000302620.3:p.His261Gln
ENST00000307503.3:c.783T>A	ENSP00000302620.3:p.His261Gln
ENST00000476698.1:n.435T>A
NM_000030.2:c.783T>A	NP_000021.1:p.His261Gln
NM_000030.3:c.783T>A MANE Select	NP_000021.1:p.His261Gln