Canonical Allele Identifier: CA2209401
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs781175092
ExAC: 2:241817610 C / T
gnomAD v2: 2-241817610-C-T
gnomAD v3: 2-240878193-C-T
gnomAD v4: 2-240878193-C-T
MyVariant Identifiers: chr2:g.241817610C>T (hg19) chr2:g.240878193C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878193C>T , CM000664.2:g.240878193C>T GRCh38
NC_000002.11:g.241817610C>T , CM000664.1:g.241817610C>T GRCh37
NC_000002.10:g.241466283C>T NCBI36
NG_008005.1:g.14449C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.1071+43C>T MANE Select ENSP00000302620.3:n.1071+43C>T
ENST00000307503.3:c.1071+43C>T ENSP00000302620.3:n.1071+43C>T
ENST00000470255.1:n.849+43C>T
NM_000030.2:c.1071+43C>T NP_000021.1:n.1071+43C>T
NM_000030.3:c.1071+43C>T MANE Select NP_000021.1:n.1071+43C>T
Search 100 bp 5'
Search 100 bp 3'