Canonical Allele Identifier: CA432023214
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs1195071495
gnomAD v2: 2-241810834-G-A
gnomAD v4: 2-240871417-G-A
MyVariant Identifiers: chr2:g.241810834G>A (hg19) chr2:g.240871417G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240871417G>A , CM000664.2:g.240871417G>A GRCh38
NC_000002.11:g.241810834G>A , CM000664.1:g.241810834G>A GRCh37
NC_000002.10:g.241459507G>A NCBI36
NG_008005.1:g.7673G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.492G>A MANE Select ENSP00000302620.3:p.Gln164=
ENST00000307503.3:c.492G>A ENSP00000302620.3:p.Gln164=
ENST00000472436.1:n.512G>A
ENST00000476698.1:n.229G>A
NM_000030.2:c.492G>A NP_000021.1:p.Gln164=
NM_000030.3:c.492G>A MANE Select NP_000021.1:p.Gln164=
Search 100 bp 5'
Search 100 bp 3'