Canonical Allele Identifier: CA2615095520

Gene: LIPT2

Linked Data

• gnomAD v4: 11-74493185-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.74493185G>C , CM000673.2:g.74493185G>C	GRCh38
NC_000011.9:g.74204230G>C , CM000673.1:g.74204230G>C	GRCh37
NC_000011.8:g.73881878G>C	NCBI36
NG_051333.1:g.5529C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310109.5:c.466+53C>G MANE Select	ENSP00000309463.4:n.466+53C>G
ENST00000310109.4:c.466+53C>G	ENSP00000309463.4:n.466+53C>G
ENST00000527115.1:c.116+15C>G
ENST00000528085.1:c.181+282C>G
NM_001144869.1:c.466+53C>G	NP_001138341.1:n.466+53C>G
XM_011545021.1:c.504+15C>G	XP_011543323.1:n.504+15C>G
NM_001144869.2:c.466+53C>G	NP_001138341.1:n.466+53C>G
NM_001329941.1:c.504+15C>G	NP_001316870.1:n.504+15C>G
NM_001329942.1:c.237+282C>G	NP_001316871.1:n.237+282C>G
NM_001144869.3:c.466+53C>G MANE Select	NP_001138341.1:n.466+53C>G
NM_001329941.2:c.504+15C>G	NP_001316870.1:n.504+15C>G
NM_001329942.2:c.237+282C>G	NP_001316871.1:n.237+282C>G