Canonical Allele Identifier: CA2208955
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs746639824
ExAC: 2:241808270 T / G
gnomAD v2: 2-241808270-T-G
gnomAD v4: 2-240868853-T-G
MyVariant Identifiers: chr2:g.241808270T>G (hg19) chr2:g.240868853T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240868853T>G , CM000664.2:g.240868853T>G GRCh38
NC_000002.11:g.241808270T>G , CM000664.1:g.241808270T>G GRCh37
NC_000002.10:g.241456943T>G NCBI36
NG_008005.1:g.5109T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.-13T>G MANE Select ENSP00000302620.3:n.-13T>G
ENST00000307503.3:c.-13T>G ENSP00000302620.3:n.-13T>G
ENST00000472436.1:n.8T>G
NM_000030.2:c.-13T>G NP_000021.1:n.-13T>G
XR_924060.1:n.405+1380A>C
NM_000030.3:c.-13T>G MANE Select NP_000021.1:n.-13T>G
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