Canonical Allele Identifier: CA2209056
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 2664121
ClinVar RCV Id: RCV003445267
dbSNP Id: rs376844297
ExAC: 2:241808773 C / A
gnomAD v2: 2-241808773-C-A
gnomAD v3: 2-240869356-C-A
gnomAD v4: 2-240869356-C-A
MyVariant Identifiers: chr2:g.241808773C>A (hg19) chr2:g.240869356C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869356C>A , CM000664.2:g.240869356C>A GRCh38
NC_000002.11:g.241808773C>A , CM000664.1:g.241808773C>A GRCh37
NC_000002.10:g.241457446C>A NCBI36
NG_008005.1:g.5612C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.352C>A MANE Select ENSP00000302620.3:p.Arg118Ser
ENST00000307503.3:c.352C>A ENSP00000302620.3:p.Arg118Ser
ENST00000472436.1:n.372C>A
NM_000030.2:c.352C>A NP_000021.1:p.Arg118Ser
XR_924060.1:n.405+877G>T
NM_000030.3:c.352C>A MANE Select NP_000021.1:p.Arg118Ser
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