Canonical Allele Identifier: CA224979313
Community Standard Title: NM_001144869.3(LIPT2):c.251G>C (p.Gly84Ala)
Gene: LIPT2 HGNC NCBI
LIPT2-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.74493453C>G , CM000673.2:g.74493453C>G GRCh38
NC_000011.9:g.74204498C>G , CM000673.1:g.74204498C>G GRCh37
NC_000011.8:g.73882146C>G NCBI36
NG_051333.1:g.5261G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001144869.3:c.251G>C (LIPT2) MANE Select NP_001138341.1:p.Gly84Ala
ENST00000310109.5:c.251G>C (LIPT2) MANE Select ENSP00000309463.4:p.Gly84Ala
NM_001144869.1:c.251G>C (LIPT2) NP_001138341.1:p.Gly84Ala
NM_001144869.2:c.251G>C (LIPT2) NP_001138341.1:p.Gly84Ala
NM_001319240.1:c.-778C>G (LIPT2-AS1) NP_001306169.1:n.-778C>G
NM_001329941.1:c.251G>C (LIPT2) NP_001316870.1:p.Gly84Ala
NM_001329941.2:c.251G>C (LIPT2) NP_001316870.1:p.Gly84Ala
NM_001329942.1:c.237+14G>C (LIPT2) NP_001316871.1:n.237+14G>C
NM_001329942.2:c.237+14G>C (LIPT2) NP_001316871.1:n.237+14G>C
NR_171028.1:n.74C>G (LIPT2-AS1)
ENST00000310109.4:c.251G>C (LIPT2) ENSP00000309463.4:p.Gly84Ala
ENST00000528085.1:c.181+14G>C (LIPT2)
XM_011545021.1:c.251G>C (LIPT2) XP_011543323.1:p.Gly84Ala
XR_132892.1:n.14C>G (LIPT2-AS1)