Canonical Allele Identifier: CA2692653772
Gene: AGPAT2 HGNC NCBI

Linked Data

gnomAD v4: 9-136673907-GCACCTGCACTGTGAC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136673908_136673922del , CM000671.2:g.136673908_136673922del GRCh38
NC_000009.11:g.139568360_139568374del , CM000671.1:g.139568360_139568374del GRCh37
NC_000009.10:g.138688181_138688195del NCBI36
NG_008090.1:g.18538_18552del

Transcript Alleles

HGVS Amino-acid Change
ENST00000371696.7:c.667_681del MANE Select ENSP00000360761.2:p.Val223_Val227del
ENST00000371694.7:c.571_585del ENSP00000360759.3:p.Val191_Val195del
ENST00000371696.6:c.667_681del ENSP00000360761.2:p.Val223_Val227del
ENST00000472820.1:n.595_609del
ENST00000538402.1:c.667_681del ENSP00000438919.1:p.Val223_Val227del
NM_001012727.1:c.571_585del NP_001012745.1:p.Val191_Val195del
NM_006412.3:c.667_681del NP_006403.2:p.Val223_Val227del
NM_006412.4:c.667_681del MANE Select NP_006403.2:p.Val223_Val227del
NM_001012727.2:c.571_585del NP_001012745.1:p.Val191_Val195del
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