Canonical Allele Identifier: CA2209434
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 2041014
ClinVar RCV Id: RCV002890904 RCV002912826
dbSNP Id: rs372021565
ExAC: 2:241818204 C / T
gnomAD v2: 2-241818204-C-T
gnomAD v3: 2-240878787-C-T
gnomAD v4: 2-240878787-C-T
MyVariant Identifiers: chr2:g.241818204C>T (hg19) chr2:g.240878787C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878787C>T , CM000664.2:g.240878787C>T GRCh38
NC_000002.11:g.241818204C>T , CM000664.1:g.241818204C>T GRCh37
NC_000002.10:g.241466877C>T NCBI36
NG_008005.1:g.15043C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.1145C>T MANE Select ENSP00000302620.3:p.Ala382Val
ENST00000307503.3:c.1145C>T ENSP00000302620.3:p.Ala382Val
ENST00000470255.1:n.923C>T
NM_000030.2:c.1145C>T NP_000021.1:p.Ala382Val
NM_000030.3:c.1145C>T MANE Select NP_000021.1:p.Ala382Val
Search 100 bp 5'
Search 100 bp 3'