Canonical Allele Identifier: CA2209356
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 1125635
ClinVar RCV Id: RCV001457438
dbSNP Id: rs376541242
ExAC: 2:241817431 T / C
gnomAD v2: 2-241817431-T-C
gnomAD v3: 2-240878014-T-C
gnomAD v4: 2-240878014-T-C
MyVariant Identifiers: chr2:g.241817431T>C (hg19) chr2:g.240878014T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878014T>C , CM000664.2:g.240878014T>C GRCh38
NC_000002.11:g.241817431T>C , CM000664.1:g.241817431T>C GRCh37
NC_000002.10:g.241466104T>C NCBI36
NG_008005.1:g.14270T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.943-8T>C MANE Select ENSP00000302620.3:n.943-8T>C
ENST00000307503.3:c.943-8T>C ENSP00000302620.3:n.943-8T>C
ENST00000470255.1:n.721-8T>C
NM_000030.2:c.943-8T>C NP_000021.1:n.943-8T>C
NM_000030.3:c.943-8T>C MANE Select NP_000021.1:n.943-8T>C
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