Canonical Allele Identifier: CA6184906
Gene: LIPT2 HGNC NCBI
ClinVar RCV:
RCV001520561
RCV001730809
RCV003980594
ClinVar Variation:
1169390
COSMIC:
COSM147288
dbSNP:
586088
gnomAD v2:
11:74203308 T / A
gnomAD v3:
11:74492263 T / A
gnomAD v4:
chr11-74492263-T-A
Joint Max Group AF 0.66531181 (EAS)
Genomes Max Group AF 0.6306778 (EAS)
Exomes Max Group AF 0.66812234 (EAS)
MyVariant.info:
GRCh38 chr11:g.74492263T>A
GRCh37 chr11:g.74203308T>A
Revel Score:
ENST00000527115 0.053
ENST00000310109 (MANE Select) 0.266
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.74492263T>A , CM000673.2:g.74492263T>A GRCh38
NC_000011.9:g.74203308T>A , CM000673.1:g.74203308T>A GRCh37
NC_000011.8:g.73880956T>A NCBI36
NG_051333.1:g.6451A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000310109.5:c.568A>T MANE Select ENSP00000309463.4:p.Thr190Ser
ENST00000310109.4:c.568A>T ENSP00000309463.4:p.Thr190Ser
ENST00000527115.1:c.218A>T
NM_001144869.1:c.568A>T NP_001138341.1:p.Thr190Ser
XM_011545021.1:c.606A>T XP_011543323.1:p.Gly202=
NM_001144869.2:c.568A>T NP_001138341.1:p.Thr190Ser
NM_001329941.1:c.606A>T NP_001316870.1:p.Gly202=
NM_001329942.1:c.339A>T NP_001316871.1:p.Gly113=
NM_001144869.3:c.568A>T MANE Select NP_001138341.1:p.Thr190Ser
NM_001329941.2:c.606A>T NP_001316870.1:p.Gly202=
NM_001329942.2:c.339A>T NP_001316871.1:p.Gly113=
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