Canonical Allele Identifier: CA275548
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 204020
ClinVar RCV Id: RCV001513320
dbSNP Id: rs34885252
ExAC: 2:241808347 A / G
gnomAD v2: 2-241808347-A-G
gnomAD v3: 2-240868930-A-G
gnomAD v4: 2-240868930-A-G
MyVariant Identifiers: chr2:g.241808347A>G (hg19) chr2:g.240868930A>G (hg38)
PubMed: PMID:19479957
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240868930A>G , CM000664.2:g.240868930A>G GRCh38
NC_000002.11:g.241808347A>G , CM000664.1:g.241808347A>G GRCh37
NC_000002.10:g.241457020A>G NCBI36
NG_008005.1:g.5186A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.65A>G MANE Select ENSP00000302620.3:p.Asn22Ser
ENST00000307503.3:c.65A>G ENSP00000302620.3:p.Asn22Ser
ENST00000472436.1:n.85A>G
NM_000030.2:c.65A>G NP_000021.1:p.Asn22Ser
XR_924060.1:n.405+1303T>C
NM_000030.3:c.65A>G MANE Select NP_000021.1:p.Asn22Ser
Search 100 bp 5'
Search 100 bp 3'