Canonical Allele Identifier: CA275721

Gene: AGXT

Linked Data

• ClinVar Variation Id: 204118
• ClinVar RCV Id: RCV000186324 ; RCV001857589 ; RCV002307437
• dbSNP Id: rs180177248
• ExAC: 2:241813413 C / T
• gnomAD v2: 2-241813413-C-T
• gnomAD v4: 2-240873996-C-T
• COSMIC: COSM4939441
• MyVariant Identifiers: chr2:g.241813413C>T (hg19) ; chr2:g.240873996C>T (hg38)
• PubMed: PMID:19479957

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240873996C>T , CM000664.2:g.240873996C>T	GRCh38
NC_000002.11:g.241813413C>T , CM000664.1:g.241813413C>T	GRCh37
NC_000002.10:g.241462086C>T	NCBI36
NG_008005.1:g.10252C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.614C>T MANE Select	ENSP00000302620.3:p.Ser205Leu
ENST00000307503.3:c.614C>T	ENSP00000302620.3:p.Ser205Leu
ENST00000476698.1:n.332+947C>T
NM_000030.2:c.614C>T	NP_000021.1:p.Ser205Leu
NM_000030.3:c.614C>T MANE Select	NP_000021.1:p.Ser205Leu