Canonical Allele Identifier: CA432024426
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 2106161
ClinVar RCV Id: RCV003015097
dbSNP Id: rs1230353353
gnomAD v2: 2-241814610-C-T
gnomAD v4: 2-240875193-C-T
MyVariant Identifiers: chr2:g.241814610C>T (hg19) chr2:g.240875193C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240875193C>T , CM000664.2:g.240875193C>T GRCh38
NC_000002.11:g.241814610C>T , CM000664.1:g.241814610C>T GRCh37
NC_000002.10:g.241463283C>T NCBI36
NG_008005.1:g.11449C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.765C>T MANE Select ENSP00000302620.3:p.Asp255=
ENST00000307503.3:c.765C>T ENSP00000302620.3:p.Asp255=
ENST00000476698.1:n.417C>T
NM_000030.2:c.765C>T NP_000021.1:p.Asp255=
NM_000030.3:c.765C>T MANE Select NP_000021.1:p.Asp255=
Search 100 bp 5'
Search 100 bp 3'