Canonical Allele Identifier: CA2209271
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 1519263
ClinVar RCV Id: RCV002024481
dbSNP Id: rs767607960
ExAC: 2:241815399 G / T
gnomAD v2: 2-241815399-G-T
gnomAD v4: 2-240875982-G-T
MyVariant Identifiers: chr2:g.241815399G>T (hg19) chr2:g.240875982G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240875982G>T , CM000664.2:g.240875982G>T GRCh38
NC_000002.11:g.241815399G>T , CM000664.1:g.241815399G>T GRCh37
NC_000002.10:g.241464072G>T NCBI36
NG_008005.1:g.12238G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.824G>T MANE Select ENSP00000302620.3:p.Ser275Ile
ENST00000307503.3:c.824G>T ENSP00000302620.3:p.Ser275Ile
ENST00000476698.1:n.476G>T
NM_000030.2:c.824G>T NP_000021.1:p.Ser275Ile
NM_000030.3:c.824G>T MANE Select NP_000021.1:p.Ser275Ile
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