Canonical Allele Identifier: CA8873175

Gene: LPIN2

Linked Data

• ClinVar Variation Id: 378093
• ClinVar RCV Id: RCV000553003 ; RCV001702639 ; RCV002252120 ; RCV002263673 ; RCV003902480
• dbSNP Id: rs200259086
• ExAC: 18:2934451 G / A
• gnomAD v2: 18-2934451-G-A
• gnomAD v3: 18-2934453-G-A
• gnomAD v4: 18-2934453-G-A
• MyVariant Identifiers: chr18:g.2934451G>A (hg19) ; chr18:g.2934453G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2934453G>A , CM000680.2:g.2934453G>A	GRCh38
NC_000018.9:g.2934451G>A , CM000680.1:g.2934451G>A	GRCh37
NC_000018.8:g.2924451G>A	NCBI36
NG_007507.1:g.82495C>T , LRG_174:g.82495C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261596.9:c.1169-3C>T	ENSP00000261596.4:n.1169-3C>T
ENST00000697039.1:c.1169-3C>T	ENSP00000513061.1:n.1169-3C>T
ENST00000697040.1:c.1169-3C>T	ENSP00000513062.1:n.1169-3C>T
ENST00000697042.1:c.1169-3C>T	ENSP00000513064.1:n.1169-3C>T
ENST00000677752.1:c.1169-3C>T MANE Select	ENSP00000504857.1:n.1169-3C>T
ENST00000261596.8:c.1169-3C>T	ENSP00000261596.4:n.1169-3C>T
NM_014646.2:c.1169-3C>T , LRG_174t1:c.1169-3C>T	NP_055461.1:n.1169-3C>T
XM_005258177.3:c.1280-3C>T	XP_005258234.1:n.1280-3C>T
XM_005258178.2:c.1169-3C>T	XP_005258235.1:n.1169-3C>T
XM_005258179.3:c.1169-3C>T	XP_005258236.1:n.1169-3C>T
XR_935074.1:n.1298-3C>T
XM_005258177.4:c.1280-3C>T	XP_005258234.1:n.1280-3C>T
XM_005258178.3:c.1169-3C>T	XP_005258235.1:n.1169-3C>T
XM_005258179.5:c.1169-3C>T	XP_005258236.1:n.1169-3C>T
XM_017026098.1:c.1169-3C>T	XP_016881587.1:n.1169-3C>T
XM_017026099.1:c.1169-3C>T	XP_016881588.1:n.1169-3C>T
XR_935074.2:n.1343-3C>T
NM_001375808.1:c.1169-3C>T	NP_001362737.1:n.1169-3C>T
NM_001375809.1:c.1169-3C>T	NP_001362738.1:n.1169-3C>T
NM_001375808.2:c.1169-3C>T MANE Select	NP_001362737.1:n.1169-3C>T