Canonical Allele Identifier: CA432024395
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 3007934
ClinVar RCV Id: RCV003864533
MyVariant Identifiers: chr2:g.241814569C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240875152C>T , CM000664.2:g.240875152C>T GRCh38
NC_000002.11:g.241814569C>T , CM000664.1:g.241814569C>T GRCh37
NC_000002.10:g.241463242C>T NCBI36
NG_008005.1:g.11408C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.724C>T MANE Select ENSP00000302620.3:p.Leu242=
ENST00000307503.3:c.724C>T ENSP00000302620.3:p.Leu242=
ENST00000476698.1:n.376C>T
NM_000030.2:c.724C>T NP_000021.1:p.Leu242=
NM_000030.3:c.724C>T MANE Select NP_000021.1:p.Leu242=
Search 100 bp 5'
Search 100 bp 3'