Canonical Allele Identifier: CA540535755
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs1346286899
gnomAD v2: 2-241812350-C-T
MyVariant Identifiers: chr2:g.241812350C>T (hg19) chr2:g.240872933C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240872933C>T , CM000664.2:g.240872933C>T GRCh38
NC_000002.11:g.241812350C>T , CM000664.1:g.241812350C>T GRCh37
NC_000002.10:g.241461023C>T NCBI36
NG_008005.1:g.9189C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.525-46C>T MANE Select ENSP00000302620.3:n.525-46C>T
ENST00000307503.3:c.525-46C>T ENSP00000302620.3:n.525-46C>T
ENST00000472436.1:n.545-46C>T
ENST00000476698.1:n.262-46C>T
NM_000030.2:c.525-46C>T NP_000021.1:n.525-46C>T
NM_000030.3:c.525-46C>T MANE Select NP_000021.1:n.525-46C>T
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