Canonical Allele Identifier: CA2526630534

Gene: LIPT2

Linked Data

• gnomAD v4: 11-74493213-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.74493213T>C , CM000673.2:g.74493213T>C	GRCh38
NC_000011.9:g.74204258T>C , CM000673.1:g.74204258T>C	GRCh37
NC_000011.8:g.73881906T>C	NCBI36
NG_051333.1:g.5501A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310109.5:c.466+25A>G MANE Select	ENSP00000309463.4:n.466+25A>G
ENST00000310109.4:c.466+25A>G	ENSP00000309463.4:n.466+25A>G
ENST00000527115.1:c.103A>G
ENST00000528085.1:c.181+254A>G
NM_001144869.1:c.466+25A>G	NP_001138341.1:n.466+25A>G
XM_011545021.1:c.491A>G	XP_011543323.1:p.Tyr164Cys
NM_001144869.2:c.466+25A>G	NP_001138341.1:n.466+25A>G
NM_001329941.1:c.491A>G	NP_001316870.1:p.Tyr164Cys
NM_001329942.1:c.237+254A>G	NP_001316871.1:n.237+254A>G
NM_001144869.3:c.466+25A>G MANE Select	NP_001138341.1:n.466+25A>G
NM_001329941.2:c.491A>G	NP_001316870.1:p.Tyr164Cys
NM_001329942.2:c.237+254A>G	NP_001316871.1:n.237+254A>G