Canonical Allele Identifier: CA8872654

Gene: LPIN2

Linked Data

• ClinVar Variation Id: 234343
• ClinVar RCV Id: RCV000274408 ; RCV000658798 ; RCV002262820 ; RCV003947730
• dbSNP Id: rs201160155
• ExAC: 18:2920361 C / A
• gnomAD v2: 18-2920361-C-A
• gnomAD v3: 18-2920363-C-A
• gnomAD v4: 18-2920363-C-A
• COSMIC: COSM2809531
• MyVariant Identifiers: chr18:g.2920361C>A (hg19) ; chr18:g.2920363C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2920363C>A , CM000680.2:g.2920363C>A	GRCh38
NC_000018.9:g.2920361C>A , CM000680.1:g.2920361C>A	GRCh37
NC_000018.8:g.2910361C>A	NCBI36
NG_007507.1:g.96585G>T , LRG_174:g.96585G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261596.9:c.2621G>T	ENSP00000261596.4:p.Cys874Phe
ENST00000697039.1:c.2546+415G>T	ENSP00000513061.1:n.2546+415G>T
ENST00000697040.1:c.2621G>T	ENSP00000513062.1:p.Cys874Phe
ENST00000697041.1:c.1656G>T	ENSP00000513063.1:n.1656G>T
ENST00000677752.1:c.2621G>T MANE Select	ENSP00000504857.1:p.Cys874Phe
ENST00000261596.8:c.2621G>T	ENSP00000261596.4:p.Cys874Phe
NM_014646.2:c.2621G>T , LRG_174t1:c.2621G>T	NP_055461.1:p.Cys874Phe
XM_005258177.3:c.2732G>T	XP_005258234.1:p.Cys911Phe
XM_005258178.2:c.2621G>T	XP_005258235.1:p.Cys874Phe
XM_005258179.3:c.2621G>T	XP_005258236.1:p.Cys874Phe
XM_005258177.4:c.2732G>T	XP_005258234.1:p.Cys911Phe
XM_005258178.3:c.2621G>T	XP_005258235.1:p.Cys874Phe
XM_005258179.5:c.2621G>T	XP_005258236.1:p.Cys874Phe
XM_017026098.1:c.2621G>T	XP_016881587.1:p.Cys874Phe
XM_017026099.1:c.2621G>T	XP_016881588.1:p.Cys874Phe
NM_001375808.1:c.2621G>T	NP_001362737.1:p.Cys874Phe
NM_001375809.1:c.2621G>T	NP_001362738.1:p.Cys874Phe
NM_001375808.2:c.2621G>T MANE Select	NP_001362737.1:p.Cys874Phe