Canonical Allele Identifier: CA540534173
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs1393243638
gnomAD v2: 2-241808814-T-A
gnomAD v4: 2-240869397-T-A
MyVariant Identifiers: chr2:g.241808814T>A (hg19) chr2:g.240869397T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869397T>A , CM000664.2:g.240869397T>A GRCh38
NC_000002.11:g.241808814T>A , CM000664.1:g.241808814T>A GRCh37
NC_000002.10:g.241457487T>A NCBI36
NG_008005.1:g.5653T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.358+35T>A MANE Select ENSP00000302620.3:n.358+35T>A
ENST00000307503.3:c.358+35T>A ENSP00000302620.3:n.358+35T>A
ENST00000472436.1:n.378+35T>A
NM_000030.2:c.358+35T>A NP_000021.1:n.358+35T>A
XR_924060.1:n.405+836A>T
NM_000030.3:c.358+35T>A MANE Select NP_000021.1:n.358+35T>A
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