Canonical Allele Identifier: CA1130033635
Gene: AGPAT2 HGNC NCBI

Linked Data

dbSNP Id: rs1846064937
gnomAD v3: 9-136674613-CATGGTCACCGT-C
gnomAD v4: 9-136674613-CATGGTCACCGT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136674614_136674624del , CM000671.2:g.136674614_136674624del GRCh38
NC_000009.11:g.139569066_139569076del , CM000671.1:g.139569066_139569076del GRCh37
NC_000009.10:g.138688887_138688897del NCBI36
NG_008090.1:g.17836_17846del

Transcript Alleles

HGVS Amino-acid Change
ENST00000371696.7:c.661+111_661+121del MANE Select ENSP00000360761.2:n.661+111_661+121del
ENST00000371694.7:c.565+111_565+121del ENSP00000360759.3:n.565+111_565+121del
ENST00000371696.6:c.661+111_661+121del ENSP00000360761.2:n.661+111_661+121del
ENST00000472820.1:n.589+111_589+121del
ENST00000538402.1:c.661+111_661+121del ENSP00000438919.1:n.661+111_661+121del
NM_001012727.1:c.565+111_565+121del NP_001012745.1:n.565+111_565+121del
NM_006412.3:c.661+111_661+121del NP_006403.2:n.661+111_661+121del
NM_006412.4:c.661+111_661+121del MANE Select NP_006403.2:n.661+111_661+121del
NM_001012727.2:c.565+111_565+121del NP_001012745.1:n.565+111_565+121del
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