Canonical Allele Identifier: CA14245775

Gene: LONP2

Linked Data

• dbSNP Id: rs6500380
• gnomAD v2: 16-48375777-A-G
• gnomAD v3: 16-48341866-A-G
• gnomAD v4: 16-48341866-A-G
• MyVariant Identifiers: chr16:g.48375777A>G (hg19) ; chr16:g.48341866A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.48341866A>G , CM000678.2:g.48341866A>G	GRCh38
NC_000016.9:g.48375777A>G , CM000678.1:g.48375777A>G	GRCh37
NC_000016.8:g.46933278A>G	NCBI36
NG_053011.1:g.102700A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000285737.9:c.1939-5641A>G MANE Select	ENSP00000285737.4:n.1939-5641A>G
ENST00000285737.8:c.1939-5641A>G	ENSP00000285737.4:n.1939-5641A>G
ENST00000416006.7:c.*94+5368A>G	ENSP00000415983.3:n.*94+5368A>G
ENST00000535754.5:c.1807-5641A>G	ENSP00000445426.1:n.1807-5641A>G
ENST00000565867.2:c.48-5641A>G
ENST00000566755.5:c.*941-5641A>G	ENSP00000457841.1:n.*941-5641A>G
NM_001300948.1:c.1807-5641A>G	NP_001287877.1:n.1807-5641A>G
NM_031490.3:c.1939-5641A>G	NP_113678.2:n.1939-5641A>G
XM_011523371.1:c.1938+7508A>G	XP_011521673.1:n.1938+7508A>G
NM_001300948.2:c.1807-5641A>G	NP_001287877.1:n.1807-5641A>G
NM_001348078.1:c.1939-5641A>G	NP_001335007.1:n.1939-5641A>G
NM_031490.4:c.1939-5641A>G	NP_113678.2:n.1939-5641A>G
NM_001300948.3:c.1807-5641A>G	NP_001287877.1:n.1807-5641A>G
NM_001348078.2:c.1939-5641A>G	NP_001335007.1:n.1939-5641A>G
NM_031490.5:c.1939-5641A>G MANE Select	NP_113678.2:n.1939-5641A>G