Canonical Allele Identifier: CA2209217
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 1154352
ClinVar RCV Id: RCV001496348
dbSNP Id: rs201438986
ExAC: 2:241814562 C / T
gnomAD v2: 2-241814562-C-T
gnomAD v3: 2-240875145-C-T
gnomAD v4: 2-240875145-C-T
COSMIC: COSM3579999
MyVariant Identifiers: chr2:g.241814562C>T (hg19) chr2:g.240875145C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240875145C>T , CM000664.2:g.240875145C>T GRCh38
NC_000002.11:g.241814562C>T , CM000664.1:g.241814562C>T GRCh37
NC_000002.10:g.241463235C>T NCBI36
NG_008005.1:g.11401C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.717C>T MANE Select ENSP00000302620.3:p.Ser239=
ENST00000307503.3:c.717C>T ENSP00000302620.3:p.Ser239=
ENST00000476698.1:n.369C>T
NM_000030.2:c.717C>T NP_000021.1:p.Ser239=
NM_000030.3:c.717C>T MANE Select NP_000021.1:p.Ser239=
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