Canonical Allele Identifier: CA2280791485
Community Standard Title: NM_001375808.2(LPIN2):c.1550G= (p.Arg517=)
Gene: LPIN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.2929065C= , CM000680.2:g.2929065C= GRCh38
NC_000018.9:g.2929063C= , CM000680.1:g.2929063C= GRCh37
NC_000018.8:g.2919063C= NCBI36
NG_007507.1:g.87883G= , LRG_174:g.87883G=

Transcript Alleles

HGVS Amino-acid Change
NM_001375808.2:c.1550G= MANE Select NP_001362737.1:p.Arg517=
ENST00000677752.1:c.1550G= MANE Select ENSP00000504857.1:p.Arg517=
NM_001375808.1:c.1550G= NP_001362737.1:p.Arg517=
NM_001375809.1:c.1550G= NP_001362738.1:p.Arg517=
NM_014646.2:c.1550G= , LRG_174t1:c.1550G= NP_055461.1:p.Arg517=
ENST00000261596.8:c.1550G= ENSP00000261596.4:p.Arg517=
ENST00000261596.9:c.1550G= ENSP00000261596.4:p.Arg517=
ENST00000697039.1:c.1550G= ENSP00000513061.1:p.Arg517=
ENST00000697040.1:c.1550G= ENSP00000513062.1:p.Arg517=
ENST00000697041.1:c.245G= ENSP00000513063.1:p.Arg82=
ENST00000697042.1:c.1550G= ENSP00000513064.1:p.Arg517=
XM_005258177.3:c.1661G= XP_005258234.1:p.Arg554=
XM_005258177.4:c.1661G= XP_005258234.1:p.Arg554=
XM_005258178.2:c.1550G= XP_005258235.1:p.Arg517=
XM_005258178.3:c.1550G= XP_005258235.1:p.Arg517=
XM_005258179.3:c.1550G= XP_005258236.1:p.Arg517=
XM_005258179.5:c.1550G= XP_005258236.1:p.Arg517=
XM_017026098.1:c.1550G= XP_016881587.1:p.Arg517=
XM_017026099.1:c.1550G= XP_016881588.1:p.Arg517=
XR_935074.1:n.1679G=
XR_935074.2:n.1724G=