Canonical Allele Identifier: CA2209439

Gene: AGXT

Linked Data

• dbSNP Id: rs763302725
• ExAC: 2:241818275 C / CT
• gnomAD v2: 2-241818275-C-CT
• gnomAD v4: 2-240878858-C-CT
• MyVariant Identifiers: chr2:g.241818275_241818276insT (hg19) ; chr2:g.240878858_240878859insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240878859dup , CM000664.2:g.240878859dup	GRCh38
NC_000002.11:g.241818276dup , CM000664.1:g.241818276dup	GRCh37
NC_000002.10:g.241466949dup	NCBI36
NG_008005.1:g.15115dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.*38dup MANE Select	ENSP00000302620.3:n.*38dup
ENST00000307503.3:c.*38dup	ENSP00000302620.3:n.*38dup
ENST00000470255.1:n.995dup
NM_000030.2:c.*38dup	NP_000021.1:n.*38dup
NM_000030.3:c.*38dup MANE Select	NP_000021.1:n.*38dup