Canonical Allele Identifier: CA401697302
Gene: LPIN2 HGNC NCBI

Linked Data

gnomAD v4: 18-2922140-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.2922140C>A , CM000680.2:g.2922140C>A GRCh38
NC_000018.9:g.2922138C>A , CM000680.1:g.2922138C>A GRCh37
NC_000018.8:g.2912138C>A NCBI36
NG_007507.1:g.94808G>T , LRG_174:g.94808G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261596.9:c.2234G>T ENSP00000261596.4:p.Arg745Leu
ENST00000697039.1:c.2234G>T ENSP00000513061.1:p.Arg745Leu
ENST00000697040.1:c.2234G>T ENSP00000513062.1:p.Arg745Leu
ENST00000697041.1:c.929G>T ENSP00000513063.1:p.Arg310Leu
ENST00000677752.1:c.2234G>T MANE Select ENSP00000504857.1:p.Arg745Leu
ENST00000261596.8:c.2234G>T ENSP00000261596.4:p.Arg745Leu
NM_014646.2:c.2234G>T , LRG_174t1:c.2234G>T NP_055461.1:p.Arg745Leu
XM_005258177.3:c.2345G>T XP_005258234.1:p.Arg782Leu
XM_005258178.2:c.2234G>T XP_005258235.1:p.Arg745Leu
XM_005258179.3:c.2234G>T XP_005258236.1:p.Arg745Leu
XM_005258177.4:c.2345G>T XP_005258234.1:p.Arg782Leu
XM_005258178.3:c.2234G>T XP_005258235.1:p.Arg745Leu
XM_005258179.5:c.2234G>T XP_005258236.1:p.Arg745Leu
XM_017026098.1:c.2234G>T XP_016881587.1:p.Arg745Leu
XM_017026099.1:c.2234G>T XP_016881588.1:p.Arg745Leu
NM_001375808.1:c.2234G>T NP_001362737.1:p.Arg745Leu
NM_001375809.1:c.2234G>T NP_001362738.1:p.Arg745Leu
NM_001375808.2:c.2234G>T MANE Select NP_001362737.1:p.Arg745Leu