Canonical Allele Identifier: CA68181205
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 898287
ClinVar RCV Id: RCV001142086
dbSNP Id: rs567385270
gnomAD v2: 2-241818523-G-A
gnomAD v3: 2-240879106-G-A
gnomAD v4: 2-240879106-G-A
MyVariant Identifiers: chr2:g.241818523G>A (hg19) chr2:g.240879106G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240879106G>A , CM000664.2:g.240879106G>A GRCh38
NC_000002.11:g.241818523G>A , CM000664.1:g.241818523G>A GRCh37
NC_000002.10:g.241467196G>A NCBI36
NG_008005.1:g.15362G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.*285G>A MANE Select ENSP00000302620.3:n.*285G>A
ENST00000307503.3:c.*285G>A ENSP00000302620.3:n.*285G>A
ENST00000470255.1:n.1242G>A
NM_000030.2:c.*285G>A NP_000021.1:n.*285G>A
NM_000030.3:c.*285G>A MANE Select NP_000021.1:n.*285G>A
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