Canonical Allele Identifier: CA68181143
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs1002302590
gnomAD v3: 2-240878878-G-A
gnomAD v4: 2-240878878-G-A
MyVariant Identifiers: chr2:g.241818295G>A (hg19) chr2:g.240878878G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878878G>A , CM000664.2:g.240878878G>A GRCh38
NC_000002.11:g.241818295G>A , CM000664.1:g.241818295G>A GRCh37
NC_000002.10:g.241466968G>A NCBI36
NG_008005.1:g.15134G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.*57G>A MANE Select ENSP00000302620.3:n.*57G>A
ENST00000307503.3:c.*57G>A ENSP00000302620.3:n.*57G>A
ENST00000470255.1:n.1014G>A
NM_000030.2:c.*57G>A NP_000021.1:n.*57G>A
NM_000030.3:c.*57G>A MANE Select NP_000021.1:n.*57G>A
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