Canonical Allele Identifier: CA1982908651

Gene: LIPT2

Linked Data

• dbSNP Id: rs1864385091

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.74493209del , CM000673.2:g.74493209del	GRCh38
NC_000011.9:g.74204254del , CM000673.1:g.74204254del	GRCh37
NC_000011.8:g.73881902del	NCBI36
NG_051333.1:g.5505del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310109.5:c.466+29del MANE Select	ENSP00000309463.4:n.466+29del
ENST00000310109.4:c.466+29del	ENSP00000309463.4:n.466+29del
ENST00000527115.1:c.107del
ENST00000528085.1:c.181+258del
NM_001144869.1:c.466+29del	NP_001138341.1:n.466+29del
XM_011545021.1:c.495del	XP_011543323.1:p.Arg166GlufsTer27
NM_001144869.2:c.466+29del	NP_001138341.1:n.466+29del
NM_001329941.1:c.495del	NP_001316870.1:p.Arg166GlufsTer27
NM_001329942.1:c.237+258del	NP_001316871.1:n.237+258del
NM_001144869.3:c.466+29del MANE Select	NP_001138341.1:n.466+29del
NM_001329941.2:c.495del	NP_001316870.1:p.Arg166GlufsTer27
NM_001329942.2:c.237+258del	NP_001316871.1:n.237+258del