Canonical Allele Identifier: CA540752906
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs866716772
gnomAD v2: 2-241808163-G-A
gnomAD v3: 2-240868746-G-A
gnomAD v4: 2-240868746-G-A
MyVariant Identifiers: chr2:g.241808163G>A (hg19) chr2:g.240868746G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240868746G>A , CM000664.2:g.240868746G>A GRCh38
NC_000002.11:g.241808163G>A , CM000664.1:g.241808163G>A GRCh37
NC_000002.10:g.241456836G>A NCBI36
NG_008005.1:g.5002G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.3:c.-120G>A ENSP00000302620.3:n.-120G>A
NM_000030.2:c.-120G>A NP_000021.1:n.-120G>A
XR_924060.1:n.405+1487C>T
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