Canonical Allele Identifier: CA2208969
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 1147023
ClinVar RCV Id: RCV001486425
dbSNP Id: rs530836808
ExAC: 2:241808321 C / T
gnomAD v2: 2-241808321-C-T
gnomAD v3: 2-240868904-C-T
gnomAD v4: 2-240868904-C-T
MyVariant Identifiers: chr2:g.241808321C>T (hg19) chr2:g.240868904C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240868904C>T , CM000664.2:g.240868904C>T GRCh38
NC_000002.11:g.241808321C>T , CM000664.1:g.241808321C>T GRCh37
NC_000002.10:g.241456994C>T NCBI36
NG_008005.1:g.5160C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.39C>T MANE Select ENSP00000302620.3:p.Ala13=
ENST00000307503.3:c.39C>T ENSP00000302620.3:p.Ala13=
ENST00000472436.1:n.59C>T
NM_000030.2:c.39C>T NP_000021.1:p.Ala13=
XR_924060.1:n.405+1329G>A
NM_000030.3:c.39C>T MANE Select NP_000021.1:p.Ala13=
Search 100 bp 5'
Search 100 bp 3'