Canonical Allele Identifier: CA8872797

Gene: LPIN2

Linked Data

• dbSNP Id: rs753995597
• ExAC: 18:2922130 G / A
• gnomAD v2: 18-2922130-G-A
• gnomAD v4: 18-2922132-G-A
• MyVariant Identifiers: chr18:g.2922130G>A (hg19) ; chr18:g.2922132G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2922132G>A , CM000680.2:g.2922132G>A	GRCh38
NC_000018.9:g.2922130G>A , CM000680.1:g.2922130G>A	GRCh37
NC_000018.8:g.2912130G>A	NCBI36
NG_007507.1:g.94816C>T , LRG_174:g.94816C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261596.9:c.2242C>T	ENSP00000261596.4:p.Leu748=
ENST00000697039.1:c.2242C>T	ENSP00000513061.1:p.Leu748=
ENST00000697040.1:c.2242C>T	ENSP00000513062.1:p.Leu748=
ENST00000697041.1:c.937C>T	ENSP00000513063.1:p.Leu313=
ENST00000677752.1:c.2242C>T MANE Select	ENSP00000504857.1:p.Leu748=
ENST00000261596.8:c.2242C>T	ENSP00000261596.4:p.Leu748=
NM_014646.2:c.2242C>T , LRG_174t1:c.2242C>T	NP_055461.1:p.Leu748=
XM_005258177.3:c.2353C>T	XP_005258234.1:p.Leu785=
XM_005258178.2:c.2242C>T	XP_005258235.1:p.Leu748=
XM_005258179.3:c.2242C>T	XP_005258236.1:p.Leu748=
XM_005258177.4:c.2353C>T	XP_005258234.1:p.Leu785=
XM_005258178.3:c.2242C>T	XP_005258235.1:p.Leu748=
XM_005258179.5:c.2242C>T	XP_005258236.1:p.Leu748=
XM_017026098.1:c.2242C>T	XP_016881587.1:p.Leu748=
XM_017026099.1:c.2242C>T	XP_016881588.1:p.Leu748=
NM_001375808.1:c.2242C>T	NP_001362737.1:p.Leu748=
NM_001375809.1:c.2242C>T	NP_001362738.1:p.Leu748=
NM_001375808.2:c.2242C>T MANE Select	NP_001362737.1:p.Leu748=