Canonical Allele Identifier: CA540537932
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs1404993345
gnomAD v2: 2-241816611-C-T
gnomAD v4: 2-240877194-C-T
MyVariant Identifiers: chr2:g.241816611C>T (hg19) chr2:g.240877194C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240877194C>T , CM000664.2:g.240877194C>T GRCh38
NC_000002.11:g.241816611C>T , CM000664.1:g.241816611C>T GRCh37
NC_000002.10:g.241465284C>T NCBI36
NG_008005.1:g.13450C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.847-343C>T MANE Select ENSP00000302620.3:n.847-343C>T
ENST00000307503.3:c.847-343C>T ENSP00000302620.3:n.847-343C>T
ENST00000470255.1:n.282C>T
NM_000030.2:c.847-343C>T NP_000021.1:n.847-343C>T
NM_000030.3:c.847-343C>T MANE Select NP_000021.1:n.847-343C>T
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