Canonical Allele Identifier: CA600712347

Gene: LIPT2

Linked Data

• dbSNP Id: rs1243664890
• gnomAD v2: 11-74204261-C-A
• gnomAD v4: 11-74493216-C-A
• MyVariant Identifiers: chr11:g.74204261C>A (hg19) ; chr11:g.74493216C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.74493216C>A , CM000673.2:g.74493216C>A	GRCh38
NC_000011.9:g.74204261C>A , CM000673.1:g.74204261C>A	GRCh37
NC_000011.8:g.73881909C>A	NCBI36
NG_051333.1:g.5498G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310109.5:c.466+22G>T MANE Select	ENSP00000309463.4:n.466+22G>T
ENST00000310109.4:c.466+22G>T	ENSP00000309463.4:n.466+22G>T
ENST00000527115.1:c.100G>T
ENST00000528085.1:c.181+251G>T
NM_001144869.1:c.466+22G>T	NP_001138341.1:n.466+22G>T
XM_011545021.1:c.488G>T	XP_011543323.1:p.Arg163Leu
NM_001144869.2:c.466+22G>T	NP_001138341.1:n.466+22G>T
NM_001329941.1:c.488G>T	NP_001316870.1:p.Arg163Leu
NM_001329942.1:c.237+251G>T	NP_001316871.1:n.237+251G>T
NM_001144869.3:c.466+22G>T MANE Select	NP_001138341.1:n.466+22G>T
NM_001329941.2:c.488G>T	NP_001316870.1:p.Arg163Leu
NM_001329942.2:c.237+251G>T	NP_001316871.1:n.237+251G>T