Canonical Allele Identifier: CA351318118
Gene: AGXT HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.241814569C>A (hg19) chr2:g.240875152C>A (hg38)
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.724C>A MANE Select ENSP00000302620.3:p.Leu242Met
ENST00000307503.3:c.724C>A ENSP00000302620.3:p.Leu242Met
ENST00000476698.1:n.376C>A
NM_000030.2:c.724C>A NP_000021.1:p.Leu242Met
NM_000030.3:c.724C>A MANE Select NP_000021.1:p.Leu242Met
Search 100 bp 5'
Search 100 bp 3'