Canonical Allele Identifier: CA939597101

Gene: LIPT2

Linked Data

• dbSNP Id: rs1252291831
• gnomAD v3: 11-74493188-T-G
• gnomAD v4: 11-74493188-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.74493188T>G , CM000673.2:g.74493188T>G	GRCh38
NC_000011.9:g.74204233T>G , CM000673.1:g.74204233T>G	GRCh37
NC_000011.8:g.73881881T>G	NCBI36
NG_051333.1:g.5526A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310109.5:c.466+50A>C MANE Select	ENSP00000309463.4:n.466+50A>C
ENST00000310109.4:c.466+50A>C	ENSP00000309463.4:n.466+50A>C
ENST00000527115.1:c.116+12A>C
ENST00000528085.1:c.181+279A>C
NM_001144869.1:c.466+50A>C	NP_001138341.1:n.466+50A>C
XM_011545021.1:c.504+12A>C	XP_011543323.1:n.504+12A>C
NM_001144869.2:c.466+50A>C	NP_001138341.1:n.466+50A>C
NM_001329941.1:c.504+12A>C	NP_001316870.1:n.504+12A>C
NM_001329942.1:c.237+279A>C	NP_001316871.1:n.237+279A>C
NM_001144869.3:c.466+50A>C MANE Select	NP_001138341.1:n.466+50A>C
NM_001329941.2:c.504+12A>C	NP_001316870.1:n.504+12A>C
NM_001329942.2:c.237+279A>C	NP_001316871.1:n.237+279A>C