Canonical Allele Identifier: CA351313272
Gene: AGXT HGNC NCBI

Linked Data

gnomAD v4: 2-240869012-G-T
MyVariant Identifiers: chr2:g.241808429G>T (hg19) chr2:g.240869012G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869012G>T , CM000664.2:g.240869012G>T GRCh38
NC_000002.11:g.241808429G>T , CM000664.1:g.241808429G>T GRCh37
NC_000002.10:g.241457102G>T NCBI36
NG_008005.1:g.5268G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.147G>T MANE Select ENSP00000302620.3:p.Met49Ile
ENST00000307503.3:c.147G>T ENSP00000302620.3:p.Met49Ile
ENST00000472436.1:n.167G>T
NM_000030.2:c.147G>T NP_000021.1:p.Met49Ile
XR_924060.1:n.405+1221C>A
NM_000030.3:c.147G>T MANE Select NP_000021.1:p.Met49Ile
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