Canonical Allele Identifier: CA2209120
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs755134732
ExAC: 2:241812348 G / C
gnomAD v2: 2-241812348-G-C
gnomAD v3: 2-240872931-G-C
gnomAD v4: 2-240872931-G-C
MyVariant Identifiers: chr2:g.241812348G>C (hg19) chr2:g.240872931G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240872931G>C , CM000664.2:g.240872931G>C GRCh38
NC_000002.11:g.241812348G>C , CM000664.1:g.241812348G>C GRCh37
NC_000002.10:g.241461021G>C NCBI36
NG_008005.1:g.9187G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.525-48G>C MANE Select ENSP00000302620.3:n.525-48G>C
ENST00000307503.3:c.525-48G>C ENSP00000302620.3:n.525-48G>C
ENST00000472436.1:n.545-48G>C
ENST00000476698.1:n.262-48G>C
NM_000030.2:c.525-48G>C NP_000021.1:n.525-48G>C
NM_000030.3:c.525-48G>C MANE Select NP_000021.1:n.525-48G>C
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