Canonical Allele Identifier: CA2615095579

Gene: LIPT2

Linked Data

• gnomAD v4: 11-74493228-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.74493228C>T , CM000673.2:g.74493228C>T	GRCh38
NC_000011.9:g.74204273C>T , CM000673.1:g.74204273C>T	GRCh37
NC_000011.8:g.73881921C>T	NCBI36
NG_051333.1:g.5486G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310109.5:c.466+10G>A MANE Select	ENSP00000309463.4:n.466+10G>A
ENST00000310109.4:c.466+10G>A	ENSP00000309463.4:n.466+10G>A
ENST00000527115.1:c.88G>A
ENST00000528085.1:c.181+239G>A
NM_001144869.1:c.466+10G>A	NP_001138341.1:n.466+10G>A
XM_011545021.1:c.476G>A	XP_011543323.1:p.Arg159His
NM_001144869.2:c.466+10G>A	NP_001138341.1:n.466+10G>A
NM_001329941.1:c.476G>A	NP_001316870.1:p.Arg159His
NM_001329942.1:c.237+239G>A	NP_001316871.1:n.237+239G>A
NM_001144869.3:c.466+10G>A MANE Select	NP_001138341.1:n.466+10G>A
NM_001329941.2:c.476G>A	NP_001316870.1:p.Arg159His
NM_001329942.2:c.237+239G>A	NP_001316871.1:n.237+239G>A