Canonical Allele Identifier: CA600712346

Gene: LIPT2

Linked Data

• dbSNP Id: rs1307748013
• gnomAD v2: 11-74204260-C-G
• gnomAD v4: 11-74493215-C-G
• MyVariant Identifiers: chr11:g.74204260C>G (hg19) ; chr11:g.74493215C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.74493215C>G , CM000673.2:g.74493215C>G	GRCh38
NC_000011.9:g.74204260C>G , CM000673.1:g.74204260C>G	GRCh37
NC_000011.8:g.73881908C>G	NCBI36
NG_051333.1:g.5499G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310109.5:c.466+23G>C MANE Select	ENSP00000309463.4:n.466+23G>C
ENST00000310109.4:c.466+23G>C	ENSP00000309463.4:n.466+23G>C
ENST00000527115.1:c.101G>C
ENST00000528085.1:c.181+252G>C
NM_001144869.1:c.466+23G>C	NP_001138341.1:n.466+23G>C
XM_011545021.1:c.489G>C	XP_011543323.1:p.Arg163=
NM_001144869.2:c.466+23G>C	NP_001138341.1:n.466+23G>C
NM_001329941.1:c.489G>C	NP_001316870.1:p.Arg163=
NM_001329942.1:c.237+252G>C	NP_001316871.1:n.237+252G>C
NM_001144869.3:c.466+23G>C MANE Select	NP_001138341.1:n.466+23G>C
NM_001329941.2:c.489G>C	NP_001316870.1:p.Arg163=
NM_001329942.2:c.237+252G>C	NP_001316871.1:n.237+252G>C