Canonical Allele Identifier: CA275741

Gene: AGXT

Linked Data

• ClinVar Variation Id: 204129
• ClinVar RCV Id: RCV000186335 ; RCV001852426
• dbSNP Id: rs146525143
• ExAC: 2:241815397 G / C
• gnomAD v2: 2-241815397-G-C
• gnomAD v3: 2-240875980-G-C
• gnomAD v4: 2-240875980-G-C
• MyVariant Identifiers: chr2:g.241815397G>C (hg19) ; chr2:g.240875980G>C (hg38)
• PubMed: PMID:19479957 ; PMID:22923379 ; PMID:24718375

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240875980G>C , CM000664.2:g.240875980G>C	GRCh38
NC_000002.11:g.241815397G>C , CM000664.1:g.241815397G>C	GRCh37
NC_000002.10:g.241464070G>C	NCBI36
NG_008005.1:g.12236G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.822G>C MANE Select	ENSP00000302620.3:p.Glu274Asp
ENST00000307503.3:c.822G>C	ENSP00000302620.3:p.Glu274Asp
ENST00000476698.1:n.474G>C
NM_000030.2:c.822G>C	NP_000021.1:p.Glu274Asp
NM_000030.3:c.822G>C MANE Select	NP_000021.1:p.Glu274Asp