Canonical Allele Identifier: CA275736

Gene: AGXT

Linked Data

• ClinVar Variation Id: 204126
• ClinVar RCV Id: RCV000186332 ; RCV001236934
• dbSNP Id: rs180177264
• ExAC: 2:241814602 T / C
• gnomAD v2: 2-241814602-T-C
• gnomAD v4: 2-240875185-T-C
• MyVariant Identifiers: chr2:g.241814602T>C (hg19) ; chr2:g.240875185T>C (hg38)
• PubMed: PMID:15849466 ; PMID:17495019 ; PMID:24718375

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240875185T>C , CM000664.2:g.240875185T>C	GRCh38
NC_000002.11:g.241814602T>C , CM000664.1:g.241814602T>C	GRCh37
NC_000002.10:g.241463275T>C	NCBI36
NG_008005.1:g.11441T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.757T>C MANE Select	ENSP00000302620.3:p.Cys253Arg
ENST00000307503.3:c.757T>C	ENSP00000302620.3:p.Cys253Arg
ENST00000476698.1:n.409T>C
NM_000030.2:c.757T>C	NP_000021.1:p.Cys253Arg
NM_000030.3:c.757T>C MANE Select	NP_000021.1:p.Cys253Arg