Canonical Allele Identifier: CA2223746737
Gene: LPCAT2 HGNC NCBI
CAPNS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.55566904_55566929delinsGAGGCTGCAGCAGCTCAGTATACTCC , CM000678.2:g.55566904_55566929delinsGAGGCTGCAGCAGCTCAGTATACTCC GRCh38
NC_000016.9:g.55600816_55600841delinsGAGGCTGCAGCAGCTCAGTATACTCC , CM000678.1:g.55600816_55600841delinsGAGGCTGCAGCAGCTCAGTATACTCC GRCh37
NC_000016.8:g.54158317_54158342delinsGAGGCTGCAGCAGCTCAGTATACTCC NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000262134.10:c.1216-7727_1216-7702delinsGAGGCTGCAGCAGCTCAGTATACTCC (LPCAT2) MANE Select ENSP00000262134.5:n.1216-7727_1216-7702delinsGAGGCTGCAGCAGCTC...
ENST00000457326.3:c.148_173delinsGAGGCTGCAGCAGCTCAGTATACTCC (CAPNS2) MANE Select ENSP00000400882.2:p.Glu50=
ENST00000262134.9:c.1216-7727_1216-7702delinsGAGGCTGCAGCAGCTCAGTATACTCC (LPCAT2) ENSP00000262134.5:n.1216-7727_1216-7702delinsGAGGCTGCAGCAGCTC...
ENST00000457326.2:c.148_173delinsGAGGCTGCAGCAGCTCAGTATACTCC (CAPNS2) ENSP00000400882.2:p.Glu50=
ENST00000563095.5:n.614-7727_614-7702delinsGAGGCTGCAGCAGCTCAGTATACTCC (LPCAT2)
ENST00000565056.1:n.90-7727_90-7702delinsGAGGCTGCAGCAGCTCAGTATACTCC (LPCAT2)
ENST00000566915.5:n.1298-7727_1298-7702delinsGAGGCTGCAGCAGCTCAGTATACTCC (LPCAT2)
ENST00000615823.1:c.340-7727_340-7702delinsGAGGCTGCAGCAGCTCAGTATACTCC (LPCAT2) ENSP00000483225.1:n.340-7727_340-7702delinsGAGGCTGCAGCAGCTCAG...
NM_017839.4:c.1216-7727_1216-7702delinsGAGGCTGCAGCAGCTCAGTATACTCC (LPCAT2) NP_060309.2:n.1216-7727_1216-7702delinsGAGGCTGCAGCAGCTCAGTATA...
NM_032330.1:c.148_173delinsGAGGCTGCAGCAGCTCAGTATACTCC (CAPNS2) NP_115706.1:p.Glu50=
XM_006721211.2:c.1048-7727_1048-7702delinsGAGGCTGCAGCAGCTCAGTATACTCC (LPCAT2) XP_006721274.1:n.1048-7727_1048-7702delinsGAGGCTGCAGCAGCTCAGT...
XM_011523169.1:c.406-7727_406-7702delinsGAGGCTGCAGCAGCTCAGTATACTCC (LPCAT2) XP_011521471.1:n.406-7727_406-7702delinsGAGGCTGCAGCAGCTCAGTAT...
NM_032330.2:c.148_173delinsGAGGCTGCAGCAGCTCAGTATACTCC (CAPNS2) NP_115706.1:p.Glu50=
XM_011523169.3:c.406-7727_406-7702delinsGAGGCTGCAGCAGCTCAGTATACTCC (LPCAT2) XP_011521471.1:n.406-7727_406-7702delinsGAGGCTGCAGCAGCTCAGTAT...
XM_017023376.1:c.1048-7727_1048-7702delinsGAGGCTGCAGCAGCTCAGTATACTCC (LPCAT2) XP_016878865.1:n.1048-7727_1048-7702delinsGAGGCTGCAGCAGCTCAGT...
NM_017839.5:c.1216-7727_1216-7702delinsGAGGCTGCAGCAGCTCAGTATACTCC (LPCAT2) MANE Select NP_060309.2:n.1216-7727_1216-7702delinsGAGGCTGCAGCAGCTCAGTATA...
NM_032330.3:c.148_173delinsGAGGCTGCAGCAGCTCAGTATACTCC (CAPNS2) MANE Select NP_115706.1:p.Glu50=