Allele Registry

Canonical Allele Identifier: CA340318

Gene: LPIN2 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr18:g.2951104_2951105del

GRCh37 chr18:g.2951102_2951103del

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000005191

ClinVar Variation:

4909

dbSNP:

80338806

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2951104_2951105del , CM000680.2:g.2951104_2951105del	GRCh38
NC_000018.9:g.2951102_2951103del , CM000680.1:g.2951102_2951103del	GRCh37
NC_000018.8:g.2941102_2941103del	NCBI36
NG_007507.1:g.65843_65844del , LRG_174:g.65843_65844del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261596.9:c.540_541del	ENSP00000261596.4:p.Cys181Ter
ENST00000697039.1:c.540_541del	ENSP00000513061.1:p.Cys181Ter
ENST00000697040.1:c.540_541del	ENSP00000513062.1:p.Cys181Ter
ENST00000697042.1:c.540_541del	ENSP00000513064.1:p.Cys181Ter
ENST00000677752.1:c.540_541del MANE Select	ENSP00000504857.1:p.Cys181Ter
ENST00000261596.8:c.540_541del	ENSP00000261596.4:p.Cys181Ter
ENST00000584294.1:c.540_541del	ENSP00000463026.1:p.Cys181Ter
NM_014646.2:c.540_541del , LRG_174t1:c.540_541del	NP_055461.1:p.Cys181Ter
XM_005258177.3:c.651_652del	XP_005258234.1:p.Cys218Ter
XM_005258178.2:c.540_541del	XP_005258235.1:p.Cys181Ter
XM_005258179.3:c.540_541del	XP_005258236.1:p.Cys181Ter
XR_935074.1:n.669_670del
XM_005258177.4:c.651_652del	XP_005258234.1:p.Cys218Ter
XM_005258178.3:c.540_541del	XP_005258235.1:p.Cys181Ter
XM_005258179.5:c.540_541del	XP_005258236.1:p.Cys181Ter
XM_017026098.1:c.540_541del	XP_016881587.1:p.Cys181Ter
XM_017026099.1:c.540_541del	XP_016881588.1:p.Cys181Ter
XR_935074.2:n.714_715del
NM_001375808.1:c.540_541del	NP_001362737.1:p.Cys181Ter
NM_001375809.1:c.540_541del	NP_001362738.1:p.Cys181Ter
NM_001375808.2:c.540_541del MANE Select	NP_001362737.1:p.Cys181Ter

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