Canonical Allele Identifier: CA275776
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 204144
ClinVar RCV Id: RCV000186351
dbSNP Id: rs756437332
MyVariant Identifiers: chr2:g.241817510C>G (hg19) chr2:g.240878093C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878093C>G , CM000664.2:g.240878093C>G GRCh38
NC_000002.11:g.241817510C>G , CM000664.1:g.241817510C>G GRCh37
NC_000002.10:g.241466183C>G NCBI36
NG_008005.1:g.14349C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.1014C>G MANE Select ENSP00000302620.3:p.Tyr338Ter
ENST00000307503.3:c.1014C>G ENSP00000302620.3:p.Tyr338Ter
ENST00000470255.1:n.792C>G
NM_000030.2:c.1014C>G NP_000021.1:p.Tyr338Ter
NM_000030.3:c.1014C>G MANE Select NP_000021.1:p.Tyr338Ter
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