Canonical Allele Identifier: CA395939788
Gene: LPCAT2 HGNC NCBI
CAPNS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.55566903T>G , CM000678.2:g.55566903T>G GRCh38
NC_000016.9:g.55600815T>G , CM000678.1:g.55600815T>G GRCh37
NC_000016.8:g.54158316T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000262134.10:c.1216-7728T>G (LPCAT2) MANE Select ENSP00000262134.5:n.1216-7728T>G
ENST00000457326.3:c.147T>G (CAPNS2) MANE Select ENSP00000400882.2:p.Ser49Arg
ENST00000262134.9:c.1216-7728T>G (LPCAT2) ENSP00000262134.5:n.1216-7728T>G
ENST00000457326.2:c.147T>G (CAPNS2) ENSP00000400882.2:p.Ser49Arg
ENST00000563095.5:n.614-7728T>G (LPCAT2)
ENST00000565056.1:n.90-7728T>G (LPCAT2)
ENST00000566915.5:n.1298-7728T>G (LPCAT2)
ENST00000615823.1:c.340-7728T>G (LPCAT2) ENSP00000483225.1:n.340-7728T>G
NM_017839.4:c.1216-7728T>G (LPCAT2) NP_060309.2:n.1216-7728T>G
NM_032330.1:c.147T>G (CAPNS2) NP_115706.1:p.Ser49Arg
XM_006721211.2:c.1048-7728T>G (LPCAT2) XP_006721274.1:n.1048-7728T>G
XM_011523169.1:c.406-7728T>G (LPCAT2) XP_011521471.1:n.406-7728T>G
NM_032330.2:c.147T>G (CAPNS2) NP_115706.1:p.Ser49Arg
XM_011523169.3:c.406-7728T>G (LPCAT2) XP_011521471.1:n.406-7728T>G
XM_017023376.1:c.1048-7728T>G (LPCAT2) XP_016878865.1:n.1048-7728T>G
NM_017839.5:c.1216-7728T>G (LPCAT2) MANE Select NP_060309.2:n.1216-7728T>G
NM_032330.3:c.147T>G (CAPNS2) MANE Select NP_115706.1:p.Ser49Arg