Canonical Allele Identifier: CA351319867
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 2916735
ClinVar RCV Id: RCV003737540
dbSNP Id: rs943335449
gnomAD v2: 2-241818212-C-T
gnomAD v4: 2-240878795-C-T
MyVariant Identifiers: chr2:g.241818212C>T (hg19) chr2:g.240878795C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878795C>T , CM000664.2:g.240878795C>T GRCh38
NC_000002.11:g.241818212C>T , CM000664.1:g.241818212C>T GRCh37
NC_000002.10:g.241466885C>T NCBI36
NG_008005.1:g.15051C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.1153C>T MANE Select ENSP00000302620.3:p.Gln385Ter
ENST00000307503.3:c.1153C>T ENSP00000302620.3:p.Gln385Ter
ENST00000470255.1:n.931C>T
NM_000030.2:c.1153C>T NP_000021.1:p.Gln385Ter
NM_000030.3:c.1153C>T MANE Select NP_000021.1:p.Gln385Ter
Search 100 bp 5'
Search 100 bp 3'