Canonical Allele Identifier: CA540535748
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs755134732
gnomAD v2: 2-241812348-G-T
gnomAD v4: 2-240872931-G-T
MyVariant Identifiers: chr2:g.241812348G>T (hg19) chr2:g.240872931G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240872931G>T , CM000664.2:g.240872931G>T GRCh38
NC_000002.11:g.241812348G>T , CM000664.1:g.241812348G>T GRCh37
NC_000002.10:g.241461021G>T NCBI36
NG_008005.1:g.9187G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.525-48G>T MANE Select ENSP00000302620.3:n.525-48G>T
ENST00000307503.3:c.525-48G>T ENSP00000302620.3:n.525-48G>T
ENST00000472436.1:n.545-48G>T
ENST00000476698.1:n.262-48G>T
NM_000030.2:c.525-48G>T NP_000021.1:n.525-48G>T
NM_000030.3:c.525-48G>T MANE Select NP_000021.1:n.525-48G>T
Search 100 bp 5'
Search 100 bp 3'