Canonical Allele Identifier: CA475888802
Community Standard Title: NM_001144869.3(LIPT2):c.51C>G (p.Ala17=)
Gene: LIPT2 HGNC NCBI
LIPT2-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.74493653G>C , CM000673.2:g.74493653G>C GRCh38
NC_000011.9:g.74204698G>C , CM000673.1:g.74204698G>C GRCh37
NC_000011.8:g.73882346G>C NCBI36
NG_051333.1:g.5061C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001144869.3:c.51C>G (LIPT2) MANE Select NP_001138341.1:p.Ala17=
ENST00000310109.5:c.51C>G (LIPT2) MANE Select ENSP00000309463.4:p.Ala17=
NM_001144869.1:c.51C>G (LIPT2) NP_001138341.1:p.Ala17=
NM_001144869.2:c.51C>G (LIPT2) NP_001138341.1:p.Ala17=
NM_001319240.1:c.-578G>C (LIPT2-AS1) NP_001306169.1:n.-578G>C
NM_001329941.1:c.51C>G (LIPT2) NP_001316870.1:p.Ala17=
NM_001329941.2:c.51C>G (LIPT2) NP_001316870.1:p.Ala17=
NM_001329942.1:c.51C>G (LIPT2) NP_001316871.1:p.Ala17=
NM_001329942.2:c.51C>G (LIPT2) NP_001316871.1:p.Ala17=
NR_171028.1:n.274G>C (LIPT2-AS1)
ENST00000310109.4:c.51C>G (LIPT2) ENSP00000309463.4:p.Ala17=
XM_011545021.1:c.51C>G (LIPT2) XP_011543323.1:p.Ala17=
XR_132892.1:n.214G>C (LIPT2-AS1)