Canonical Allele Identifier: CA432025559
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 1567995
ClinVar RCV Id: RCV002210278
dbSNP Id: rs2106431755
gnomAD v4: 2-240877609-C-T
MyVariant Identifiers: chr2:g.241817026C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240877609C>T , CM000664.2:g.240877609C>T GRCh38
NC_000002.11:g.241817026C>T , CM000664.1:g.241817026C>T GRCh37
NC_000002.10:g.241465699C>T NCBI36
NG_008005.1:g.13865C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.919C>T MANE Select ENSP00000302620.3:p.Leu307=
ENST00000307503.3:c.919C>T ENSP00000302620.3:p.Leu307=
ENST00000470255.1:n.697C>T
NM_000030.2:c.919C>T NP_000021.1:p.Leu307=
NM_000030.3:c.919C>T MANE Select NP_000021.1:p.Leu307=
Search 100 bp 5'
Search 100 bp 3'