Canonical Allele Identifier: CA351319259
Gene: AGXT HGNC NCBI

Linked Data

gnomAD v4: 2-240877595-T-C
MyVariant Identifiers: chr2:g.241817012T>C (hg19) chr2:g.240877595T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240877595T>C , CM000664.2:g.240877595T>C GRCh38
NC_000002.11:g.241817012T>C , CM000664.1:g.241817012T>C GRCh37
NC_000002.10:g.241465685T>C NCBI36
NG_008005.1:g.13851T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.905T>C MANE Select ENSP00000302620.3:p.Leu302Pro
ENST00000307503.3:c.905T>C ENSP00000302620.3:p.Leu302Pro
ENST00000470255.1:n.683T>C
NM_000030.2:c.905T>C NP_000021.1:p.Leu302Pro
NM_000030.3:c.905T>C MANE Select NP_000021.1:p.Leu302Pro
Search 100 bp 5'
Search 100 bp 3'