Canonical Allele Identifier: CA2209129

Gene: AGXT

Linked Data

• dbSNP Id: rs548869946
• ExAC: 2:241812423 G / A
• gnomAD v2: 2-241812423-G-A
• gnomAD v3: 2-240873006-G-A
• gnomAD v4: 2-240873006-G-A
• MyVariant Identifiers: chr2:g.241812423G>A (hg19) ; chr2:g.240873006G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240873006G>A , CM000664.2:g.240873006G>A	GRCh38
NC_000002.11:g.241812423G>A , CM000664.1:g.241812423G>A	GRCh37
NC_000002.10:g.241461096G>A	NCBI36
NG_008005.1:g.9262G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.552G>A MANE Select	ENSP00000302620.3:p.Ser184=
ENST00000307503.3:c.552G>A	ENSP00000302620.3:p.Ser184=
ENST00000472436.1:n.572G>A
ENST00000476698.1:n.289G>A
NM_000030.2:c.552G>A	NP_000021.1:p.Ser184=
NM_000030.3:c.552G>A MANE Select	NP_000021.1:p.Ser184=