Canonical Allele Identifier: CA2209038
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 1117136
ClinVar RCV Id: RCV001445767
dbSNP Id: rs145135990
ExAC: 2:241808664 G / A
gnomAD v2: 2-241808664-G-A
gnomAD v3: 2-240869247-G-A
gnomAD v4: 2-240869247-G-A
MyVariant Identifiers: chr2:g.241808664G>A (hg19) chr2:g.240869247G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869247G>A , CM000664.2:g.240869247G>A GRCh38
NC_000002.11:g.241808664G>A , CM000664.1:g.241808664G>A GRCh37
NC_000002.10:g.241457337G>A NCBI36
NG_008005.1:g.5503G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.243G>A MANE Select ENSP00000302620.3:p.Ser81=
ENST00000307503.3:c.243G>A ENSP00000302620.3:p.Ser81=
ENST00000472436.1:n.263G>A
NM_000030.2:c.243G>A NP_000021.1:p.Ser81=
XR_924060.1:n.405+986C>T
NM_000030.3:c.243G>A MANE Select NP_000021.1:p.Ser81=
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