Canonical Allele Identifier: CA395939590

Gene: LPCAT2 CAPNS2

Linked Data

• ClinVar Variation Id: 3137212
• ClinVar RCV Id: RCV004427044
• dbSNP Id: rs747644217
• gnomAD v3: 16-55566809-C-T
• gnomAD v4: 16-55566809-C-T
• MyVariant Identifiers: chr16:g.55600721C>T (hg19) ; chr16:g.55566809C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.55566809C>T , CM000678.2:g.55566809C>T	GRCh38
NC_000016.9:g.55600721C>T , CM000678.1:g.55600721C>T	GRCh37
NC_000016.8:g.54158222C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262134.10:c.1216-7822C>T (LPCAT2) MANE Select	ENSP00000262134.5:n.1216-7822C>T
ENST00000457326.3:c.53C>T (CAPNS2) MANE Select	ENSP00000400882.2:p.Ala18Val
ENST00000262134.9:c.1216-7822C>T (LPCAT2)	ENSP00000262134.5:n.1216-7822C>T
ENST00000457326.2:c.53C>T (CAPNS2)	ENSP00000400882.2:p.Ala18Val
ENST00000563095.5:n.614-7822C>T (LPCAT2)
ENST00000565056.1:n.90-7822C>T (LPCAT2)
ENST00000566915.5:n.1298-7822C>T (LPCAT2)
ENST00000615823.1:c.340-7822C>T (LPCAT2)	ENSP00000483225.1:n.340-7822C>T
NM_017839.4:c.1216-7822C>T (LPCAT2)	NP_060309.2:n.1216-7822C>T
NM_032330.1:c.53C>T (CAPNS2)	NP_115706.1:p.Ala18Val
XM_006721211.2:c.1048-7822C>T (LPCAT2)	XP_006721274.1:n.1048-7822C>T
XM_011523169.1:c.406-7822C>T (LPCAT2)	XP_011521471.1:n.406-7822C>T
NM_032330.2:c.53C>T (CAPNS2)	NP_115706.1:p.Ala18Val
XM_011523169.3:c.406-7822C>T (LPCAT2)	XP_011521471.1:n.406-7822C>T
XM_017023376.1:c.1048-7822C>T (LPCAT2)	XP_016878865.1:n.1048-7822C>T
NM_017839.5:c.1216-7822C>T (LPCAT2) MANE Select	NP_060309.2:n.1216-7822C>T
NM_032330.3:c.53C>T (CAPNS2) MANE Select	NP_115706.1:p.Ala18Val