Canonical Allele Identifier: CA395940085

Gene: LPCAT2 CAPNS2

Linked Data

• gnomAD v4: 16-55567040-T-C
• MyVariant Identifiers: chr16:g.55600952T>C (hg19) ; chr16:g.55567040T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.55567040T>C , CM000678.2:g.55567040T>C	GRCh38
NC_000016.9:g.55600952T>C , CM000678.1:g.55600952T>C	GRCh37
NC_000016.8:g.54158453T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262134.10:c.1216-7591T>C (LPCAT2) MANE Select	ENSP00000262134.5:n.1216-7591T>C
ENST00000457326.3:c.284T>C (CAPNS2) MANE Select	ENSP00000400882.2:p.Val95Ala
ENST00000262134.9:c.1216-7591T>C (LPCAT2)	ENSP00000262134.5:n.1216-7591T>C
ENST00000457326.2:c.284T>C (CAPNS2)	ENSP00000400882.2:p.Val95Ala
ENST00000563095.5:n.614-7591T>C (LPCAT2)
ENST00000565056.1:n.90-7591T>C (LPCAT2)
ENST00000566915.5:n.1298-7591T>C (LPCAT2)
ENST00000615823.1:c.340-7591T>C (LPCAT2)	ENSP00000483225.1:n.340-7591T>C
NM_017839.4:c.1216-7591T>C (LPCAT2)	NP_060309.2:n.1216-7591T>C
NM_032330.1:c.284T>C (CAPNS2)	NP_115706.1:p.Val95Ala
XM_006721211.2:c.1048-7591T>C (LPCAT2)	XP_006721274.1:n.1048-7591T>C
XM_011523169.1:c.406-7591T>C (LPCAT2)	XP_011521471.1:n.406-7591T>C
NM_032330.2:c.284T>C (CAPNS2)	NP_115706.1:p.Val95Ala
XM_011523169.3:c.406-7591T>C (LPCAT2)	XP_011521471.1:n.406-7591T>C
XM_017023376.1:c.1048-7591T>C (LPCAT2)	XP_016878865.1:n.1048-7591T>C
NM_017839.5:c.1216-7591T>C (LPCAT2) MANE Select	NP_060309.2:n.1216-7591T>C
NM_032330.3:c.284T>C (CAPNS2) MANE Select	NP_115706.1:p.Val95Ala