Canonical Allele Identifier: CA381976398

Gene: LIPT2

Linked Data

• dbSNP Id: rs905577320
• gnomAD v2: 11-74204311-C-T
• gnomAD v3: 11-74493266-C-T
• gnomAD v4: 11-74493266-C-T
• MyVariant Identifiers: chr11:g.74204311C>T (hg19) ; chr11:g.74493266C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.74493266C>T , CM000673.2:g.74493266C>T	GRCh38
NC_000011.9:g.74204311C>T , CM000673.1:g.74204311C>T	GRCh37
NC_000011.8:g.73881959C>T	NCBI36
NG_051333.1:g.5448G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310109.5:c.438G>A MANE Select	ENSP00000309463.4:p.Trp146Ter
ENST00000310109.4:c.438G>A	ENSP00000309463.4:p.Trp146Ter
ENST00000527115.1:c.50G>A
ENST00000528085.1:c.181+201G>A
NM_001144869.1:c.438G>A	NP_001138341.1:p.Trp146Ter
XM_011545021.1:c.438G>A	XP_011543323.1:p.Trp146Ter
NM_001144869.2:c.438G>A	NP_001138341.1:p.Trp146Ter
NM_001329941.1:c.438G>A	NP_001316870.1:p.Trp146Ter
NM_001329942.1:c.237+201G>A	NP_001316871.1:n.237+201G>A
NM_001144869.3:c.438G>A MANE Select	NP_001138341.1:p.Trp146Ter
NM_001329941.2:c.438G>A	NP_001316870.1:p.Trp146Ter
NM_001329942.2:c.237+201G>A	NP_001316871.1:n.237+201G>A