Canonical Allele Identifier: CA475888274

Gene: LIPT2

Linked Data

• dbSNP Id: rs1359213108
• gnomAD v4: 11-74493239-G-T
• COSMIC: COSM5639422
• MyVariant Identifiers: chr11:g.74204284G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.74493239G>T , CM000673.2:g.74493239G>T	GRCh38
NC_000011.9:g.74204284G>T , CM000673.1:g.74204284G>T	GRCh37
NC_000011.8:g.73881932G>T	NCBI36
NG_051333.1:g.5475C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310109.5:c.465C>A MANE Select	ENSP00000309463.4:p.Ile155=
ENST00000310109.4:c.465C>A	ENSP00000309463.4:p.Ile155=
ENST00000527115.1:c.77C>A
ENST00000528085.1:c.181+228C>A
NM_001144869.1:c.465C>A	NP_001138341.1:p.Ile155=
XM_011545021.1:c.465C>A	XP_011543323.1:p.Ile155=
NM_001144869.2:c.465C>A	NP_001138341.1:p.Ile155=
NM_001329941.1:c.465C>A	NP_001316870.1:p.Ile155=
NM_001329942.1:c.237+228C>A	NP_001316871.1:n.237+228C>A
NM_001144869.3:c.465C>A MANE Select	NP_001138341.1:p.Ile155=
NM_001329941.2:c.465C>A	NP_001316870.1:p.Ile155=
NM_001329942.2:c.237+228C>A	NP_001316871.1:n.237+228C>A