Canonical Allele Identifier: CA540535799
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 2681172
ClinVar RCV Id: RCV003468697
dbSNP Id: rs1179823296
gnomAD v2: 2-241812440-G-GA
gnomAD v3: 2-240873023-G-GA
gnomAD v4: 2-240873023-G-GA
MyVariant Identifiers: chr2:g.241812440_241812441insA (hg19) chr2:g.240873023_240873024insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240873023_240873024insA , CM000664.2:g.240873023_240873024insA GRCh38
NC_000002.11:g.241812440_241812441insA , CM000664.1:g.241812440_241812441insA GRCh37
NC_000002.10:g.241461113_241461114insA NCBI36
NG_008005.1:g.9279_9280insA

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.569_570insA MANE Select ENSP00000302620.3:p.Thr191AspfsTer?
ENST00000307503.3:c.569_570insA ENSP00000302620.3:p.Thr191AspfsTer?
ENST00000472436.1:n.589_590insA
ENST00000476698.1:n.306_307insA
NM_000030.2:c.569_570insA NP_000021.1:p.Thr191AspfsTer?
NM_000030.3:c.569_570insA MANE Select NP_000021.1:p.Thr191AspfsTer?
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Search 100 bp 3'