Canonical Allele Identifier: CA267513

Gene: LPIN2

Linked Data

• ClinVar Variation Id: 97814
• ClinVar RCV Id: RCV000084067 ; RCV000221897 ; RCV000762223 ; RCV002262674 ; RCV003915108
• dbSNP Id: rs104895500
• ExAC: 18:2929103 G / A
• gnomAD v2: 18-2929103-G-A
• gnomAD v3: 18-2929105-G-A
• gnomAD v4: 18-2929105-G-A
• MyVariant Identifiers: chr18:g.2929103G>A (hg19) ; chr18:g.2929105G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2929105G>A , CM000680.2:g.2929105G>A	GRCh38
NC_000018.9:g.2929103G>A , CM000680.1:g.2929103G>A	GRCh37
NC_000018.8:g.2919103G>A	NCBI36
NG_007507.1:g.87843C>T , LRG_174:g.87843C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261596.9:c.1510C>T	ENSP00000261596.4:p.Leu504Phe
ENST00000697039.1:c.1510C>T	ENSP00000513061.1:p.Leu504Phe
ENST00000697040.1:c.1510C>T	ENSP00000513062.1:p.Leu504Phe
ENST00000697041.1:c.205C>T	ENSP00000513063.1:p.Leu69Phe
ENST00000697042.1:c.1510C>T	ENSP00000513064.1:p.Leu504Phe
ENST00000677752.1:c.1510C>T MANE Select	ENSP00000504857.1:p.Leu504Phe
ENST00000261596.8:c.1510C>T	ENSP00000261596.4:p.Leu504Phe
NM_014646.2:c.1510C>T , LRG_174t1:c.1510C>T	NP_055461.1:p.Leu504Phe
XM_005258177.3:c.1621C>T	XP_005258234.1:p.Leu541Phe
XM_005258178.2:c.1510C>T	XP_005258235.1:p.Leu504Phe
XM_005258179.3:c.1510C>T	XP_005258236.1:p.Leu504Phe
XR_935074.1:n.1639C>T
XM_005258177.4:c.1621C>T	XP_005258234.1:p.Leu541Phe
XM_005258178.3:c.1510C>T	XP_005258235.1:p.Leu504Phe
XM_005258179.5:c.1510C>T	XP_005258236.1:p.Leu504Phe
XM_017026098.1:c.1510C>T	XP_016881587.1:p.Leu504Phe
XM_017026099.1:c.1510C>T	XP_016881588.1:p.Leu504Phe
XR_935074.2:n.1684C>T
NM_001375808.1:c.1510C>T	NP_001362737.1:p.Leu504Phe
NM_001375809.1:c.1510C>T	NP_001362738.1:p.Leu504Phe
NM_001375808.2:c.1510C>T MANE Select	NP_001362737.1:p.Leu504Phe