Canonical Allele Identifier: CA2209014

Gene: AGXT

Linked Data

• dbSNP Id: rs762548568
• ExAC: 2:241808544 GA / G
• gnomAD v2: 2-241808544-GA-G
• gnomAD v3: 2-240869127-GA-G
• gnomAD v4: 2-240869127-GA-G
• MyVariant Identifiers: chr2:g.241808545del (hg19) ; chr2:g.240869128del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240869128del , CM000664.2:g.240869128del	GRCh38
NC_000002.11:g.241808545del , CM000664.1:g.241808545del	GRCh37
NC_000002.10:g.241457218del	NCBI36
NG_008005.1:g.5384del

Transcript Alleles

HGVS	Amino-acid change
ENST00000307503.4:c.166-42del MANE Select	ENSP00000302620.3:n.166-42del
ENST00000307503.3:c.166-42del	ENSP00000302620.3:n.166-42del
ENST00000472436.1:n.186-42del
NM_000030.2:c.166-42del	NP_000021.1:n.166-42del
XR_924060.1:n.405+1105del
NM_000030.3:c.166-42del MANE Select	NP_000021.1:n.166-42del