Canonical Allele Identifier: CA381976385
Gene: LIPT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1954719
ClinVar RCV Id: RCV002690155
dbSNP Id: rs376565466

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.74493260G>T , CM000673.2:g.74493260G>T GRCh38
NC_000011.9:g.74204305G>T , CM000673.1:g.74204305G>T GRCh37
NC_000011.8:g.73881953G>T NCBI36
NG_051333.1:g.5454C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000310109.5:c.444C>A MANE Select ENSP00000309463.4:p.Asp148Glu
ENST00000310109.4:c.444C>A ENSP00000309463.4:p.Asp148Glu
ENST00000527115.1:c.56C>A
ENST00000528085.1:c.181+207C>A
NM_001144869.1:c.444C>A NP_001138341.1:p.Asp148Glu
XM_011545021.1:c.444C>A XP_011543323.1:p.Asp148Glu
NM_001144869.2:c.444C>A NP_001138341.1:p.Asp148Glu
NM_001329941.1:c.444C>A NP_001316870.1:p.Asp148Glu
NM_001329942.1:c.237+207C>A NP_001316871.1:n.237+207C>A
NM_001144869.3:c.444C>A MANE Select NP_001138341.1:p.Asp148Glu
NM_001329941.2:c.444C>A NP_001316870.1:p.Asp148Glu
NM_001329942.2:c.237+207C>A NP_001316871.1:n.237+207C>A