Canonical Allele Identifier: CA224979262

Gene: LIPT2

Linked Data

• dbSNP Id: rs75431095
• gnomAD v4: 11-74493191-A-G
• MyVariant Identifiers: chr11:g.74204236A>G (hg19) ; chr11:g.74493191A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.74493191A>G , CM000673.2:g.74493191A>G	GRCh38
NC_000011.9:g.74204236A>G , CM000673.1:g.74204236A>G	GRCh37
NC_000011.8:g.73881884A>G	NCBI36
NG_051333.1:g.5523T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310109.5:c.466+47T>C MANE Select	ENSP00000309463.4:n.466+47T>C
ENST00000310109.4:c.466+47T>C	ENSP00000309463.4:n.466+47T>C
ENST00000527115.1:c.116+9T>C
ENST00000528085.1:c.181+276T>C
NM_001144869.1:c.466+47T>C	NP_001138341.1:n.466+47T>C
XM_011545021.1:c.504+9T>C	XP_011543323.1:n.504+9T>C
NM_001144869.2:c.466+47T>C	NP_001138341.1:n.466+47T>C
NM_001329941.1:c.504+9T>C	NP_001316870.1:n.504+9T>C
NM_001329942.1:c.237+276T>C	NP_001316871.1:n.237+276T>C
NM_001144869.3:c.466+47T>C MANE Select	NP_001138341.1:n.466+47T>C
NM_001329941.2:c.504+9T>C	NP_001316870.1:n.504+9T>C
NM_001329942.2:c.237+276T>C	NP_001316871.1:n.237+276T>C