Canonical Allele Identifier: CA401707036
Community Standard Title: NM_001375808.2(LPIN2):c.838C>T (p.Arg280Ter)
Gene: LPIN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.2938022G>A , CM000680.2:g.2938022G>A GRCh38
NC_000018.9:g.2938020G>A , CM000680.1:g.2938020G>A GRCh37
NC_000018.8:g.2928020G>A NCBI36
NG_007507.1:g.78926C>T , LRG_174:g.78926C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001375808.2:c.838C>T MANE Select NP_001362737.1:p.Arg280Ter
ENST00000677752.1:c.838C>T MANE Select ENSP00000504857.1:p.Arg280Ter
NM_001375808.1:c.838C>T NP_001362737.1:p.Arg280Ter
NM_001375809.1:c.838C>T NP_001362738.1:p.Arg280Ter
NM_014646.2:c.838C>T , LRG_174t1:c.838C>T NP_055461.1:p.Arg280Ter
ENST00000261596.8:c.838C>T ENSP00000261596.4:p.Arg280Ter
ENST00000261596.9:c.838C>T ENSP00000261596.4:p.Arg280Ter
ENST00000697039.1:c.838C>T ENSP00000513061.1:p.Arg280Ter
ENST00000697040.1:c.838C>T ENSP00000513062.1:p.Arg280Ter
ENST00000697042.1:c.838C>T ENSP00000513064.1:p.Arg280Ter
XM_005258177.3:c.949C>T XP_005258234.1:p.Arg317Ter
XM_005258177.4:c.949C>T XP_005258234.1:p.Arg317Ter
XM_005258178.2:c.838C>T XP_005258235.1:p.Arg280Ter
XM_005258178.3:c.838C>T XP_005258235.1:p.Arg280Ter
XM_005258179.3:c.838C>T XP_005258236.1:p.Arg280Ter
XM_005258179.5:c.838C>T XP_005258236.1:p.Arg280Ter
XM_017026098.1:c.838C>T XP_016881587.1:p.Arg280Ter
XM_017026099.1:c.838C>T XP_016881588.1:p.Arg280Ter
XR_935074.1:n.967C>T
XR_935074.2:n.1012C>T