Canonical Allele Identifier: CA540538862

Gene: AGXT

Linked Data

• dbSNP Id: rs1407423477
• gnomAD v2: 2-241818122-G-GC
• gnomAD v4: 2-240878705-G-GC
• MyVariant Identifiers: chr2:g.241818122_241818123insC (hg19) ; chr2:g.240878705_240878706insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240878711dup , CM000664.2:g.240878711dup	GRCh38
NC_000002.11:g.241818128dup , CM000664.1:g.241818128dup	GRCh37
NC_000002.10:g.241466801dup	NCBI36
NG_008005.1:g.14967dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000307503.4:c.1072-3dup MANE Select	ENSP00000302620.3:n.1072-3dup
ENST00000307503.3:c.1072-3dup	ENSP00000302620.3:n.1072-3dup
ENST00000470255.1:n.850-3dup
NM_000030.2:c.1072-3dup	NP_000021.1:n.1072-3dup
NM_000030.3:c.1072-3dup MANE Select	NP_000021.1:n.1072-3dup