Canonical Allele Identifier: CA10650683

Gene: LPIN2

Linked Data

• ClinVar Variation Id: 326623
• ClinVar RCV Id: RCV000331694 ; RCV002263036 ; RCV003221919
• dbSNP Id: rs184193388
• gnomAD v2: 18-2919933-C-T
• gnomAD v3: 18-2919935-C-T
• gnomAD v4: 18-2919935-C-T
• MyVariant Identifiers: chr18:g.2919933C>T (hg19) ; chr18:g.2919935C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2919935C>T , CM000680.2:g.2919935C>T	GRCh38
NC_000018.9:g.2919933C>T , CM000680.1:g.2919933C>T	GRCh37
NC_000018.8:g.2909933C>T	NCBI36
NG_007507.1:g.97013G>A , LRG_174:g.97013G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261596.9:c.*358G>A	ENSP00000261596.4:n.*358G>A
ENST00000697039.1:c.2546+843G>A	ENSP00000513061.1:n.2546+843G>A
ENST00000697040.1:c.*358G>A	ENSP00000513062.1:n.*358G>A
ENST00000697041.1:c.2084G>A	ENSP00000513063.1:n.2084G>A
ENST00000677752.1:c.*358G>A MANE Select	ENSP00000504857.1:n.*358G>A
ENST00000261596.8:c.*358G>A	ENSP00000261596.4:n.*358G>A
NM_014646.2:c.*358G>A , LRG_174t1:c.*358G>A	NP_055461.1:n.*358G>A
XM_005258177.3:c.*358G>A	XP_005258234.1:n.*358G>A
XM_005258178.2:c.*358G>A	XP_005258235.1:n.*358G>A
XM_005258179.3:c.*358G>A	XP_005258236.1:n.*358G>A
XM_005258177.4:c.*358G>A	XP_005258234.1:n.*358G>A
XM_005258178.3:c.*358G>A	XP_005258235.1:n.*358G>A
XM_005258179.5:c.*358G>A	XP_005258236.1:n.*358G>A
XM_017026098.1:c.*358G>A	XP_016881587.1:n.*358G>A
XM_017026099.1:c.*358G>A	XP_016881588.1:n.*358G>A
NM_001375808.1:c.*358G>A	NP_001362737.1:n.*358G>A
NM_001375809.1:c.*358G>A	NP_001362738.1:n.*358G>A
NM_001375808.2:c.*358G>A MANE Select	NP_001362737.1:n.*358G>A