Canonical Allele Identifier: CA502679753
Gene: LPIN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 536357
ClinVar RCV Id: RCV000644774
dbSNP Id: rs145270447
gnomAD v3: 18-2922058-G-T
gnomAD v4: 18-2922058-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.2922058G>T , CM000680.2:g.2922058G>T GRCh38
NC_000018.9:g.2922056G>T , CM000680.1:g.2922056G>T GRCh37
NC_000018.8:g.2912056G>T NCBI36
NG_007507.1:g.94890C>A , LRG_174:g.94890C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000261596.9:c.2316C>A ENSP00000261596.4:p.Ser772=
ENST00000697039.1:c.2316C>A ENSP00000513061.1:p.Ser772=
ENST00000697040.1:c.2316C>A ENSP00000513062.1:p.Ser772=
ENST00000697041.1:c.1011C>A ENSP00000513063.1:p.Ser337=
ENST00000677752.1:c.2316C>A MANE Select ENSP00000504857.1:p.Ser772=
ENST00000261596.8:c.2316C>A ENSP00000261596.4:p.Ser772=
NM_014646.2:c.2316C>A , LRG_174t1:c.2316C>A NP_055461.1:p.Ser772=
XM_005258177.3:c.2427C>A XP_005258234.1:p.Ser809=
XM_005258178.2:c.2316C>A XP_005258235.1:p.Ser772=
XM_005258179.3:c.2316C>A XP_005258236.1:p.Ser772=
XM_005258177.4:c.2427C>A XP_005258234.1:p.Ser809=
XM_005258178.3:c.2316C>A XP_005258235.1:p.Ser772=
XM_005258179.5:c.2316C>A XP_005258236.1:p.Ser772=
XM_017026098.1:c.2316C>A XP_016881587.1:p.Ser772=
XM_017026099.1:c.2316C>A XP_016881588.1:p.Ser772=
NM_001375808.1:c.2316C>A NP_001362737.1:p.Ser772=
NM_001375809.1:c.2316C>A NP_001362738.1:p.Ser772=
NM_001375808.2:c.2316C>A MANE Select NP_001362737.1:p.Ser772=