Canonical Allele Identifier: CA10650704

Gene: LPIN2

Linked Data

• ClinVar Variation Id: 326650
• ClinVar RCV Id: RCV000364740 ; RCV001697670 ; RCV003897744
• dbSNP Id: rs566304730
• gnomAD v2: 18-3011704-A-G
• gnomAD v3: 18-3011706-A-G
• gnomAD v4: 18-3011706-A-G
• MyVariant Identifiers: chr18:g.3011704A>G (hg19) ; chr18:g.3011706A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.3011706A>G , CM000680.2:g.3011706A>G	GRCh38
NC_000018.9:g.3011704A>G , CM000680.1:g.3011704A>G	GRCh37
NC_000018.8:g.3001704A>G	NCBI36
NG_007507.1:g.5242T>C , LRG_174:g.5242T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261596.9:c.-10+12T>C	ENSP00000261596.4:n.-10+12T>C
ENST00000697039.1:c.-10+1381T>C	ENSP00000513061.1:n.-10+1381T>C
ENST00000697040.1:c.-10+1331T>C	ENSP00000513062.1:n.-10+1331T>C
ENST00000677752.1:c.-10+1381T>C MANE Select	ENSP00000504857.1:n.-10+1381T>C
ENST00000261596.8:c.-10+12T>C	ENSP00000261596.4:n.-10+12T>C
ENST00000584294.1:c.-10+1381T>C	ENSP00000463026.1:n.-10+1381T>C
NM_014646.2:c.-10+12T>C , LRG_174t1:c.-10+12T>C	NP_055461.1:n.-10+12T>C
XM_005258178.2:c.-10+1381T>C	XP_005258235.1:n.-10+1381T>C
XM_005258179.3:c.-10+1331T>C	XP_005258236.1:n.-10+1331T>C
XR_935074.1:n.120+1331T>C
XM_005258178.3:c.-10+1381T>C	XP_005258235.1:n.-10+1381T>C
XM_005258179.5:c.-10+1331T>C	XP_005258236.1:n.-10+1331T>C
XM_017026098.1:c.-10+12T>C	XP_016881587.1:n.-10+12T>C
XR_935074.2:n.165+1331T>C
NM_001375808.1:c.-10+1381T>C	NP_001362737.1:n.-10+1381T>C
NM_001375809.1:c.-10+1331T>C	NP_001362738.1:n.-10+1331T>C
NM_001375808.2:c.-10+1381T>C MANE Select	NP_001362737.1:n.-10+1381T>C