Canonical Allele Identifier: CA2209397
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 335302
ClinVar RCV Id: RCV000335602
dbSNP Id: rs758413374
ExAC: 2:241817580 G / A
gnomAD v2: 2-241817580-G-A
gnomAD v3: 2-240878163-G-A
gnomAD v4: 2-240878163-G-A
MyVariant Identifiers: chr2:g.241817580G>A (hg19) chr2:g.240878163G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878163G>A , CM000664.2:g.240878163G>A GRCh38
NC_000002.11:g.241817580G>A , CM000664.1:g.241817580G>A GRCh37
NC_000002.10:g.241466253G>A NCBI36
NG_008005.1:g.14419G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.1071+13G>A MANE Select ENSP00000302620.3:n.1071+13G>A
ENST00000307503.3:c.1071+13G>A ENSP00000302620.3:n.1071+13G>A
ENST00000470255.1:n.849+13G>A
NM_000030.2:c.1071+13G>A NP_000021.1:n.1071+13G>A
NM_000030.3:c.1071+13G>A MANE Select NP_000021.1:n.1071+13G>A
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