Canonical Allele Identifier: CA540537876
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs1401738188
gnomAD v2: 2-241816496-T-C
gnomAD v4: 2-240877079-T-C
MyVariant Identifiers: chr2:g.241816496T>C (hg19) chr2:g.240877079T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240877079T>C , CM000664.2:g.240877079T>C GRCh38
NC_000002.11:g.241816496T>C , CM000664.1:g.241816496T>C GRCh37
NC_000002.10:g.241465169T>C NCBI36
NG_008005.1:g.13335T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.847-458T>C MANE Select ENSP00000302620.3:n.847-458T>C
ENST00000307503.3:c.847-458T>C ENSP00000302620.3:n.847-458T>C
ENST00000470255.1:n.167T>C
NM_000030.2:c.847-458T>C NP_000021.1:n.847-458T>C
NM_000030.3:c.847-458T>C MANE Select NP_000021.1:n.847-458T>C
Search 100 bp 5'
Search 100 bp 3'