Canonical Allele Identifier: CA2209369
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 1121075
ClinVar RCV Id: RCV001451263
dbSNP Id: rs759060684
ExAC: 2:241817483 C / T
gnomAD v2: 2-241817483-C-T
gnomAD v4: 2-240878066-C-T
MyVariant Identifiers: chr2:g.241817483C>T (hg19) chr2:g.240878066C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878066C>T , CM000664.2:g.240878066C>T GRCh38
NC_000002.11:g.241817483C>T , CM000664.1:g.241817483C>T GRCh37
NC_000002.10:g.241466156C>T NCBI36
NG_008005.1:g.14322C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.987C>T MANE Select ENSP00000302620.3:p.Gly329=
ENST00000307503.3:c.987C>T ENSP00000302620.3:p.Gly329=
ENST00000470255.1:n.765C>T
NM_000030.2:c.987C>T NP_000021.1:p.Gly329=
NM_000030.3:c.987C>T MANE Select NP_000021.1:p.Gly329=
Search 100 bp 5'
Search 100 bp 3'