Canonical Allele Identifier: CA2209327
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 733269
ClinVar RCV Id: RCV000908528 RCV001276585
dbSNP Id: rs763852365
ExAC: 2:241816983 C / A
gnomAD v2: 2-241816983-C-A
gnomAD v3: 2-240877566-C-A
gnomAD v4: 2-240877566-C-A
MyVariant Identifiers: chr2:g.241816983C>A (hg19) chr2:g.240877566C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240877566C>A , CM000664.2:g.240877566C>A GRCh38
NC_000002.11:g.241816983C>A , CM000664.1:g.241816983C>A GRCh37
NC_000002.10:g.241465656C>A NCBI36
NG_008005.1:g.13822C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.876C>A MANE Select ENSP00000302620.3:p.Arg292=
ENST00000307503.3:c.876C>A ENSP00000302620.3:p.Arg292=
ENST00000470255.1:n.654C>A
NM_000030.2:c.876C>A NP_000021.1:p.Arg292=
NM_000030.3:c.876C>A MANE Select NP_000021.1:p.Arg292=
Search 100 bp 5'
Search 100 bp 3'