Canonical Allele Identifier: CA68181146
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs1033344518
gnomAD v3: 2-240878879-G-T
gnomAD v4: 2-240878879-G-T
MyVariant Identifiers: chr2:g.241818296G>T (hg19) chr2:g.240878879G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878879G>T , CM000664.2:g.240878879G>T GRCh38
NC_000002.11:g.241818296G>T , CM000664.1:g.241818296G>T GRCh37
NC_000002.10:g.241466969G>T NCBI36
NG_008005.1:g.15135G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.*58G>T MANE Select ENSP00000302620.3:n.*58G>T
ENST00000307503.3:c.*58G>T ENSP00000302620.3:n.*58G>T
ENST00000470255.1:n.1015G>T
NM_000030.2:c.*58G>T NP_000021.1:n.*58G>T
NM_000030.3:c.*58G>T MANE Select NP_000021.1:n.*58G>T
Search 100 bp 5'
Search 100 bp 3'