Canonical Allele Identifier: CA2209226

Gene: AGXT

Linked Data

• ClinVar Variation Id: 1511903
• ClinVar RCV Id: RCV002020644
• dbSNP Id: rs762757818
• ExAC: 2:241814596 T / C
• gnomAD v2: 2-241814596-T-C
• gnomAD v4: 2-240875179-T-C
• MyVariant Identifiers: chr2:g.241814596T>C (hg19) ; chr2:g.240875179T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240875179T>C , CM000664.2:g.240875179T>C	GRCh38
NC_000002.11:g.241814596T>C , CM000664.1:g.241814596T>C	GRCh37
NC_000002.10:g.241463269T>C	NCBI36
NG_008005.1:g.11435T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.751T>C MANE Select	ENSP00000302620.3:p.Trp251Arg
ENST00000307503.3:c.751T>C	ENSP00000302620.3:p.Trp251Arg
ENST00000476698.1:n.403T>C
NM_000030.2:c.751T>C	NP_000021.1:p.Trp251Arg
NM_000030.3:c.751T>C MANE Select	NP_000021.1:p.Trp251Arg