Canonical Allele Identifier: CA68179712
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 2910849
ClinVar RCV Id: RCV003737379
dbSNP Id: rs147547248
gnomAD v2: 2-241814568-C-T
gnomAD v4: 2-240875151-C-T
MyVariant Identifiers: chr2:g.241814568C>T (hg19) chr2:g.240875151C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240875151C>T , CM000664.2:g.240875151C>T GRCh38
NC_000002.11:g.241814568C>T , CM000664.1:g.241814568C>T GRCh37
NC_000002.10:g.241463241C>T NCBI36
NG_008005.1:g.11407C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.723C>T MANE Select ENSP00000302620.3:p.Tyr241=
ENST00000307503.3:c.723C>T ENSP00000302620.3:p.Tyr241=
ENST00000476698.1:n.375C>T
NM_000030.2:c.723C>T NP_000021.1:p.Tyr241=
NM_000030.3:c.723C>T MANE Select NP_000021.1:p.Tyr241=
Search 100 bp 5'
Search 100 bp 3'