Canonical Allele Identifier: CA274089
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 188891
ClinVar RCV Id: RCV000169249 RCV000812967
dbSNP Id: rs180177197
ExAC: 2:241808743 T / C
gnomAD v2: 2-241808743-T-C
gnomAD v4: 2-240869326-T-C
MyVariant Identifiers: chr2:g.241808743T>C (hg19) chr2:g.240869326T>C (hg38)
PubMed: PMID:9604803 PMID:11562405 PMID:12768081 PMID:15464418 PMID:15961946 PMID:16971151 PMID:17460142 PMID:18448374 PMID:22018727 PMID:22923379 PMID:24718375
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869326T>C , CM000664.2:g.240869326T>C GRCh38
NC_000002.11:g.241808743T>C , CM000664.1:g.241808743T>C GRCh37
NC_000002.10:g.241457416T>C NCBI36
NG_008005.1:g.5582T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.322T>C MANE Select ENSP00000302620.3:p.Trp108Arg
ENST00000307503.3:c.322T>C ENSP00000302620.3:p.Trp108Arg
ENST00000472436.1:n.342T>C
NM_000030.2:c.322T>C NP_000021.1:p.Trp108Arg
XR_924060.1:n.405+907A>G
NM_000030.3:c.322T>C MANE Select NP_000021.1:p.Trp108Arg
Search 100 bp 5'
Search 100 bp 3'