Canonical Allele Identifier: CA351318259
Gene: AGXT HGNC NCBI

Linked Data

gnomAD v4: 2-240875196-G-T
MyVariant Identifiers: chr2:g.241814613G>T (hg19) chr2:g.240875196G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240875196G>T , CM000664.2:g.240875196G>T GRCh38
NC_000002.11:g.241814613G>T , CM000664.1:g.241814613G>T GRCh37
NC_000002.10:g.241463286G>T NCBI36
NG_008005.1:g.11452G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.768G>T MANE Select ENSP00000302620.3:p.Gln256His
ENST00000307503.3:c.768G>T ENSP00000302620.3:p.Gln256His
ENST00000476698.1:n.420G>T
NM_000030.2:c.768G>T NP_000021.1:p.Gln256His
NM_000030.3:c.768G>T MANE Select NP_000021.1:p.Gln256His
Search 100 bp 5'
Search 100 bp 3'