Canonical Allele Identifier: CA913189691

Gene: AGPAT2

Linked Data

• ClinVar Variation Id: 549712
• ClinVar RCV Id: RCV000754915
• dbSNP Id: rs1564290079

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136674772_136674776del , CM000671.2:g.136674772_136674776del	GRCh38
NC_000009.11:g.139569224_139569228del , CM000671.1:g.139569224_139569228del	GRCh37
NC_000009.10:g.138689045_138689049del	NCBI36
NG_008090.1:g.17686_17690del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371696.7:c.622_626del MANE Select	ENSP00000360761.2:p.Ser208LeufsTer?
ENST00000371694.7:c.526_530del	ENSP00000360759.3:p.Ser176LeufsTer?
ENST00000371696.6:c.622_626del	ENSP00000360761.2:p.Ser208LeufsTer?
ENST00000472820.1:n.550_554del
ENST00000538402.1:c.622_626del	ENSP00000438919.1:p.Ser208LeufsTer?
NM_001012727.1:c.526_530del	NP_001012745.1:p.Ser176LeufsTer?
NM_006412.3:c.622_626del	NP_006403.2:p.Ser208LeufsTer?
NM_006412.4:c.622_626del MANE Select	NP_006403.2:p.Ser208LeufsTer?
NM_001012727.2:c.526_530del	NP_001012745.1:p.Ser176LeufsTer?