Canonical Allele Identifier: CA401697225

Gene: LPIN2

Linked Data

• ClinVar Variation Id: 1012024
• ClinVar RCV Id: RCV001309916
• dbSNP Id: rs1598519554
• MyVariant Identifiers: chr18:g.2922126T>C (hg19) ; chr18:g.2922128T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2922128T>C , CM000680.2:g.2922128T>C	GRCh38
NC_000018.9:g.2922126T>C , CM000680.1:g.2922126T>C	GRCh37
NC_000018.8:g.2912126T>C	NCBI36
NG_007507.1:g.94820A>G , LRG_174:g.94820A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261596.9:c.2246A>G	ENSP00000261596.4:p.His749Arg
ENST00000697039.1:c.2246A>G	ENSP00000513061.1:p.His749Arg
ENST00000697040.1:c.2246A>G	ENSP00000513062.1:p.His749Arg
ENST00000697041.1:c.941A>G	ENSP00000513063.1:p.His314Arg
ENST00000677752.1:c.2246A>G MANE Select	ENSP00000504857.1:p.His749Arg
ENST00000261596.8:c.2246A>G	ENSP00000261596.4:p.His749Arg
NM_014646.2:c.2246A>G , LRG_174t1:c.2246A>G	NP_055461.1:p.His749Arg
XM_005258177.3:c.2357A>G	XP_005258234.1:p.His786Arg
XM_005258178.2:c.2246A>G	XP_005258235.1:p.His749Arg
XM_005258179.3:c.2246A>G	XP_005258236.1:p.His749Arg
XM_005258177.4:c.2357A>G	XP_005258234.1:p.His786Arg
XM_005258178.3:c.2246A>G	XP_005258235.1:p.His749Arg
XM_005258179.5:c.2246A>G	XP_005258236.1:p.His749Arg
XM_017026098.1:c.2246A>G	XP_016881587.1:p.His749Arg
XM_017026099.1:c.2246A>G	XP_016881588.1:p.His749Arg
NM_001375808.1:c.2246A>G	NP_001362737.1:p.His749Arg
NM_001375809.1:c.2246A>G	NP_001362738.1:p.His749Arg
NM_001375808.2:c.2246A>G MANE Select	NP_001362737.1:p.His749Arg