Canonical Allele Identifier: CA2209414
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 2203299
ClinVar RCV Id: RCV002651634
dbSNP Id: rs758493460
ExAC: 2:241818137 C / T
gnomAD v2: 2-241818137-C-T
gnomAD v4: 2-240878720-C-T
COSMIC: COSM6392671
MyVariant Identifiers: chr2:g.241818137C>T (hg19) chr2:g.240878720C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878720C>T , CM000664.2:g.240878720C>T GRCh38
NC_000002.11:g.241818137C>T , CM000664.1:g.241818137C>T GRCh37
NC_000002.10:g.241466810C>T NCBI36
NG_008005.1:g.14976C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.1078C>T MANE Select ENSP00000302620.3:p.Arg360Trp
ENST00000307503.3:c.1078C>T ENSP00000302620.3:p.Arg360Trp
ENST00000470255.1:n.856C>T
NM_000030.2:c.1078C>T NP_000021.1:p.Arg360Trp
NM_000030.3:c.1078C>T MANE Select NP_000021.1:p.Arg360Trp
Search 100 bp 5'
Search 100 bp 3'