Canonical Allele Identifier: CA68180575
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 2955032
ClinVar RCV Id: RCV003818207
dbSNP Id: rs1011143270
gnomAD v2: 2-241816943-C-T
gnomAD v3: 2-240877526-C-T
gnomAD v4: 2-240877526-C-T
MyVariant Identifiers: chr2:g.241816943C>T (hg19) chr2:g.240877526C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240877526C>T , CM000664.2:g.240877526C>T GRCh38
NC_000002.11:g.241816943C>T , CM000664.1:g.241816943C>T GRCh37
NC_000002.10:g.241465616C>T NCBI36
NG_008005.1:g.13782C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.847-11C>T MANE Select ENSP00000302620.3:n.847-11C>T
ENST00000307503.3:c.847-11C>T ENSP00000302620.3:n.847-11C>T
ENST00000470255.1:n.614C>T
NM_000030.2:c.847-11C>T NP_000021.1:n.847-11C>T
NM_000030.3:c.847-11C>T MANE Select NP_000021.1:n.847-11C>T
Search 100 bp 5'
Search 100 bp 3'