Canonical Allele Identifier: CA2209345
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs373831067
ExAC: 2:241817393 C / T
gnomAD v2: 2-241817393-C-T
gnomAD v4: 2-240877976-C-T
MyVariant Identifiers: chr2:g.241817393C>T (hg19) chr2:g.240877976C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240877976C>T , CM000664.2:g.240877976C>T GRCh38
NC_000002.11:g.241817393C>T , CM000664.1:g.241817393C>T GRCh37
NC_000002.10:g.241466066C>T NCBI36
NG_008005.1:g.14232C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.943-46C>T MANE Select ENSP00000302620.3:n.943-46C>T
ENST00000307503.3:c.943-46C>T ENSP00000302620.3:n.943-46C>T
ENST00000470255.1:n.721-46C>T
NM_000030.2:c.943-46C>T NP_000021.1:n.943-46C>T
NM_000030.3:c.943-46C>T MANE Select NP_000021.1:n.943-46C>T
Search 100 bp 5'
Search 100 bp 3'