Canonical Allele Identifier: CA401697395

Gene: LPIN2

Linked Data

• dbSNP Id: rs1354683373
• gnomAD v2: 18-2922145-T-C
• gnomAD v3: 18-2922147-T-C
• gnomAD v4: 18-2922147-T-C
• MyVariant Identifiers: chr18:g.2922145T>C (hg19) ; chr18:g.2922147T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2922147T>C , CM000680.2:g.2922147T>C	GRCh38
NC_000018.9:g.2922145T>C , CM000680.1:g.2922145T>C	GRCh37
NC_000018.8:g.2912145T>C	NCBI36
NG_007507.1:g.94801A>G , LRG_174:g.94801A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261596.9:c.2227A>G	ENSP00000261596.4:p.Met743Val
ENST00000697039.1:c.2227A>G	ENSP00000513061.1:p.Met743Val
ENST00000697040.1:c.2227A>G	ENSP00000513062.1:p.Met743Val
ENST00000697041.1:c.922A>G	ENSP00000513063.1:p.Met308Val
ENST00000677752.1:c.2227A>G MANE Select	ENSP00000504857.1:p.Met743Val
ENST00000261596.8:c.2227A>G	ENSP00000261596.4:p.Met743Val
NM_014646.2:c.2227A>G , LRG_174t1:c.2227A>G	NP_055461.1:p.Met743Val
XM_005258177.3:c.2338A>G	XP_005258234.1:p.Met780Val
XM_005258178.2:c.2227A>G	XP_005258235.1:p.Met743Val
XM_005258179.3:c.2227A>G	XP_005258236.1:p.Met743Val
XM_005258177.4:c.2338A>G	XP_005258234.1:p.Met780Val
XM_005258178.3:c.2227A>G	XP_005258235.1:p.Met743Val
XM_005258179.5:c.2227A>G	XP_005258236.1:p.Met743Val
XM_017026098.1:c.2227A>G	XP_016881587.1:p.Met743Val
XM_017026099.1:c.2227A>G	XP_016881588.1:p.Met743Val
NM_001375808.1:c.2227A>G	NP_001362737.1:p.Met743Val
NM_001375809.1:c.2227A>G	NP_001362738.1:p.Met743Val
NM_001375808.2:c.2227A>G MANE Select	NP_001362737.1:p.Met743Val