Canonical Allele Identifier: CA351319407
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 1456950
ClinVar RCV Id: RCV001953521
dbSNP Id: rs180177297
gnomAD v4: 2-240877633-G-A
MyVariant Identifiers: chr2:g.241817050G>A (hg19) chr2:g.240877633G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240877633G>A , CM000664.2:g.240877633G>A GRCh38
NC_000002.11:g.241817050G>A , CM000664.1:g.241817050G>A GRCh37
NC_000002.10:g.241465723G>A NCBI36
NG_008005.1:g.13889G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.942+1G>A MANE Select ENSP00000302620.3:n.942+1G>A
ENST00000307503.3:c.942+1G>A ENSP00000302620.3:n.942+1G>A
ENST00000470255.1:n.720+1G>A
NM_000030.2:c.942+1G>A NP_000021.1:n.942+1G>A
NM_000030.3:c.942+1G>A MANE Select NP_000021.1:n.942+1G>A
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