Canonical Allele Identifier: CA2209221
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs777895993
ExAC: 2:241814575 A / G
gnomAD v2: 2-241814575-A-G
gnomAD v4: 2-240875158-A-G
MyVariant Identifiers: chr2:g.241814575A>G (hg19) chr2:g.240875158A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240875158A>G , CM000664.2:g.240875158A>G GRCh38
NC_000002.11:g.241814575A>G , CM000664.1:g.241814575A>G GRCh37
NC_000002.10:g.241463248A>G NCBI36
NG_008005.1:g.11414A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.730A>G MANE Select ENSP00000302620.3:p.Ile244Val
ENST00000307503.3:c.730A>G ENSP00000302620.3:p.Ile244Val
ENST00000476698.1:n.382A>G
NM_000030.2:c.730A>G NP_000021.1:p.Ile244Val
NM_000030.3:c.730A>G MANE Select NP_000021.1:p.Ile244Val
Search 100 bp 5'
Search 100 bp 3'