Canonical Allele Identifier: CA2209360
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 1160181
ClinVar RCV Id: RCV001504210
dbSNP Id: rs372529853
ExAC: 2:241817441 G / C
gnomAD v2: 2-241817441-G-C
gnomAD v3: 2-240878024-G-C
gnomAD v4: 2-240878024-G-C
MyVariant Identifiers: chr2:g.241817441G>C (hg19) chr2:g.240878024G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878024G>C , CM000664.2:g.240878024G>C GRCh38
NC_000002.11:g.241817441G>C , CM000664.1:g.241817441G>C GRCh37
NC_000002.10:g.241466114G>C NCBI36
NG_008005.1:g.14280G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.945G>C MANE Select ENSP00000302620.3:p.Ala315=
ENST00000307503.3:c.945G>C ENSP00000302620.3:p.Ala315=
ENST00000470255.1:n.723G>C
NM_000030.2:c.945G>C NP_000021.1:p.Ala315=
NM_000030.3:c.945G>C MANE Select NP_000021.1:p.Ala315=
Search 100 bp 5'
Search 100 bp 3'