Canonical Allele Identifier: CA2692654589
Gene: AGPAT2 HGNC NCBI

Linked Data

gnomAD v4: 9-136676630-CAGG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136676631_136676633del , CM000671.2:g.136676631_136676633del GRCh38
NC_000009.11:g.139571083_139571085del , CM000671.1:g.139571083_139571085del GRCh37
NC_000009.10:g.138690904_138690906del NCBI36
NG_008090.1:g.15827_15829del

Transcript Alleles

HGVS Amino-acid Change
ENST00000371696.7:c.540_542del MANE Select ENSP00000360761.2:p.Asp180_Leu181delinsGlu
ENST00000371694.7:c.492+328_492+330del ENSP00000360759.3:n.492+328_492+330del
ENST00000371696.6:c.540_542del ENSP00000360761.2:p.Asp180_Leu181delinsGlu
ENST00000472820.1:n.468_470del
ENST00000538402.1:c.540_542del ENSP00000438919.1:p.Asp180_Leu181delinsGlu
NM_001012727.1:c.492+328_492+330del NP_001012745.1:n.492+328_492+330del
NM_006412.3:c.540_542del NP_006403.2:p.Asp180_Leu181delinsGlu
NM_006412.4:c.540_542del MANE Select NP_006403.2:p.Asp180_Leu181delinsGlu
NM_001012727.2:c.492+328_492+330del NP_001012745.1:n.492+328_492+330del
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