Canonical Allele Identifier: CA342166

Gene: LPIN2

Linked Data

• ClinVar Variation Id: 21519
• ClinVar RCV Id: RCV000020709
• dbSNP Id: rs80338808
• MyVariant Identifiers: chr18:g.2922044C>G (hg19) ; chr18:g.2922046C>G (hg38)
• PubMed: PMID:17330256 ; PMID:20301735

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2922046C>G , CM000680.2:g.2922046C>G	GRCh38
NC_000018.9:g.2922044C>G , CM000680.1:g.2922044C>G	GRCh37
NC_000018.8:g.2912044C>G	NCBI36
NG_007507.1:g.94902G>C , LRG_174:g.94902G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261596.9:c.2327+1G>C	ENSP00000261596.4:n.2327+1G>C
ENST00000697039.1:c.2327+1G>C	ENSP00000513061.1:n.2327+1G>C
ENST00000697040.1:c.2327+1G>C	ENSP00000513062.1:n.2327+1G>C
ENST00000697041.1:c.1022+1G>C	ENSP00000513063.1:n.1022+1G>C
ENST00000677752.1:c.2327+1G>C MANE Select	ENSP00000504857.1:n.2327+1G>C
ENST00000261596.8:c.2327+1G>C	ENSP00000261596.4:n.2327+1G>C
NM_014646.2:c.2327+1G>C , LRG_174t1:c.2327+1G>C	NP_055461.1:n.2327+1G>C
XM_005258177.3:c.2438+1G>C	XP_005258234.1:n.2438+1G>C
XM_005258178.2:c.2327+1G>C	XP_005258235.1:n.2327+1G>C
XM_005258179.3:c.2327+1G>C	XP_005258236.1:n.2327+1G>C
XM_005258177.4:c.2438+1G>C	XP_005258234.1:n.2438+1G>C
XM_005258178.3:c.2327+1G>C	XP_005258235.1:n.2327+1G>C
XM_005258179.5:c.2327+1G>C	XP_005258236.1:n.2327+1G>C
XM_017026098.1:c.2327+1G>C	XP_016881587.1:n.2327+1G>C
XM_017026099.1:c.2327+1G>C	XP_016881588.1:n.2327+1G>C
NM_001375808.1:c.2327+1G>C	NP_001362737.1:n.2327+1G>C
NM_001375809.1:c.2327+1G>C	NP_001362738.1:n.2327+1G>C
NM_001375808.2:c.2327+1G>C MANE Select	NP_001362737.1:n.2327+1G>C