Canonical Allele Identifier: CA2633286605

Gene: LPCAT2 CAPNS2

Linked Data

• gnomAD v4: 16-55566848-AAGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.55566856_55566858del , CM000678.2:g.55566856_55566858del	GRCh38
NC_000016.9:g.55600768_55600770del , CM000678.1:g.55600768_55600770del	GRCh37
NC_000016.8:g.54158269_54158271del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262134.10:c.1216-7775_1216-7773del (LPCAT2) MANE Select	ENSP00000262134.5:n.1216-7775_1216-7773del
ENST00000457326.3:c.100_102del (CAPNS2) MANE Select	ENSP00000400882.2:p.Gly34del
ENST00000262134.9:c.1216-7775_1216-7773del (LPCAT2)	ENSP00000262134.5:n.1216-7775_1216-7773del
ENST00000457326.2:c.100_102del (CAPNS2)	ENSP00000400882.2:p.Gly34del
ENST00000563095.5:n.614-7775_614-7773del (LPCAT2)
ENST00000565056.1:n.90-7775_90-7773del (LPCAT2)
ENST00000566915.5:n.1298-7775_1298-7773del (LPCAT2)
ENST00000615823.1:c.340-7775_340-7773del (LPCAT2)	ENSP00000483225.1:n.340-7775_340-7773del
NM_017839.4:c.1216-7775_1216-7773del (LPCAT2)	NP_060309.2:n.1216-7775_1216-7773del
NM_032330.1:c.100_102del (CAPNS2)	NP_115706.1:p.Gly34del
XM_006721211.2:c.1048-7775_1048-7773del (LPCAT2)	XP_006721274.1:n.1048-7775_1048-7773del
XM_011523169.1:c.406-7775_406-7773del (LPCAT2)	XP_011521471.1:n.406-7775_406-7773del
NM_032330.2:c.100_102del (CAPNS2)	NP_115706.1:p.Gly34del
XM_011523169.3:c.406-7775_406-7773del (LPCAT2)	XP_011521471.1:n.406-7775_406-7773del
XM_017023376.1:c.1048-7775_1048-7773del (LPCAT2)	XP_016878865.1:n.1048-7775_1048-7773del
NM_017839.5:c.1216-7775_1216-7773del (LPCAT2) MANE Select	NP_060309.2:n.1216-7775_1216-7773del
NM_032330.3:c.100_102del (CAPNS2) MANE Select	NP_115706.1:p.Gly34del