Canonical Allele Identifier: CA68173800
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs921701172
gnomAD v4: 2-240869244-C-T
MyVariant Identifiers: chr2:g.241808661C>T (hg19) chr2:g.240869244C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869244C>T , CM000664.2:g.240869244C>T GRCh38
NC_000002.11:g.241808661C>T , CM000664.1:g.241808661C>T GRCh37
NC_000002.10:g.241457334C>T NCBI36
NG_008005.1:g.5500C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.240C>T MANE Select ENSP00000302620.3:p.Gly80=
ENST00000307503.3:c.240C>T ENSP00000302620.3:p.Gly80=
ENST00000472436.1:n.260C>T
NM_000030.2:c.240C>T NP_000021.1:p.Gly80=
XR_924060.1:n.405+989G>A
NM_000030.3:c.240C>T MANE Select NP_000021.1:p.Gly80=
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