Canonical Allele Identifier: CA351313774
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 1323866
ClinVar RCV Id: RCV001785899
dbSNP Id: rs1304689724
gnomAD v4: 2-240869309-T-A
MyVariant Identifiers: chr2:g.241808726T>A (hg19) chr2:g.240869309T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869309T>A , CM000664.2:g.240869309T>A GRCh38
NC_000002.11:g.241808726T>A , CM000664.1:g.241808726T>A GRCh37
NC_000002.10:g.241457399T>A NCBI36
NG_008005.1:g.5565T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.305T>A MANE Select ENSP00000302620.3:p.Val102Asp
ENST00000307503.3:c.305T>A ENSP00000302620.3:p.Val102Asp
ENST00000472436.1:n.325T>A
NM_000030.2:c.305T>A NP_000021.1:p.Val102Asp
XR_924060.1:n.405+924A>T
NM_000030.3:c.305T>A MANE Select NP_000021.1:p.Val102Asp
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