Canonical Allele Identifier: CA274216
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 188985
ClinVar RCV Id: RCV000169364 RCV001386862
dbSNP Id: rs180177168
gnomAD v3: 2-240868987-G-T
gnomAD v4: 2-240868987-G-T
MyVariant Identifiers: chr2:g.241808404G>T (hg19) chr2:g.240868987G>T (hg38)
PubMed: PMID:10394939 PMID:10453743 PMID:12899834 PMID:15802217 PMID:16971151 PMID:18282470 PMID:18448374 PMID:20133649
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240868987G>T , CM000664.2:g.240868987G>T GRCh38
NC_000002.11:g.241808404G>T , CM000664.1:g.241808404G>T GRCh37
NC_000002.10:g.241457077G>T NCBI36
NG_008005.1:g.5243G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.122G>T MANE Select ENSP00000302620.3:p.Gly41Val
ENST00000307503.3:c.122G>T ENSP00000302620.3:p.Gly41Val
ENST00000472436.1:n.142G>T
NM_000030.2:c.122G>T NP_000021.1:p.Gly41Val
XR_924060.1:n.405+1246C>A
NM_000030.3:c.122G>T MANE Select NP_000021.1:p.Gly41Val
Search 100 bp 5'
Search 100 bp 3'