Canonical Allele Identifier: CA2209023
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs747661915
ExAC: 2:241808562 C / T
gnomAD v2: 2-241808562-C-T
gnomAD v3: 2-240869145-C-T
gnomAD v4: 2-240869145-C-T
MyVariant Identifiers: chr2:g.241808562C>T (hg19) chr2:g.240869145C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869145C>T , CM000664.2:g.240869145C>T GRCh38
NC_000002.11:g.241808562C>T , CM000664.1:g.241808562C>T GRCh37
NC_000002.10:g.241457235C>T NCBI36
NG_008005.1:g.5401C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.166-25C>T MANE Select ENSP00000302620.3:n.166-25C>T
ENST00000307503.3:c.166-25C>T ENSP00000302620.3:n.166-25C>T
ENST00000472436.1:n.186-25C>T
NM_000030.2:c.166-25C>T NP_000021.1:n.166-25C>T
XR_924060.1:n.405+1088G>A
NM_000030.3:c.166-25C>T MANE Select NP_000021.1:n.166-25C>T
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