Canonical Allele Identifier: CA2654932
Community Standard Title: NM_182943.3(PLOD2):c.1318C>T (p.Arg440Ter)
Gene: PLOD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.146081778G>A , CM000665.2:g.146081778G>A GRCh38
NC_000003.11:g.145799565G>A , CM000665.1:g.145799565G>A GRCh37
NC_000003.10:g.147282255G>A NCBI36
NG_009251.1:g.84718C>T

Transcript Alleles

HGVS Amino-acid Change
NM_182943.3:c.1318C>T MANE Select NP_891988.1:p.Arg440Ter
ENST00000282903.10:c.1318C>T MANE Select ENSP00000282903.5:p.Arg440Ter
NM_000935.2:c.1318C>T NP_000926.2:p.Arg440Ter
NM_000935.3:c.1318C>T NP_000926.2:p.Arg440Ter
NM_182943.2:c.1318C>T NP_891988.1:p.Arg440Ter
ENST00000282903.9:c.1318C>T ENSP00000282903.5:p.Arg440Ter
ENST00000360060.7:c.1318C>T ENSP00000353170.3:p.Arg440Ter
ENST00000461497.5:c.298C>T ENSP00000419354.1:p.Arg100Ter
ENST00000469350.6:c.1234C>T ENSP00000419963.2:p.Arg412Ter
ENST00000478436.1:n.1653C>T
ENST00000480704.2:c.*1082C>T ENSP00000419880.1:n.*1082C>T
ENST00000494950.5:c.1153C>T ENSP00000420094.1:p.Arg385Ter
ENST00000703517.1:n.579+20977C>T
ENST00000703518.1:c.1318C>T ENSP00000515350.1:p.Arg440Ter
ENST00000703519.1:n.1335C>T
ENST00000703520.1:c.1318C>T ENSP00000515351.1:p.Arg440Ter
ENST00000703521.1:c.*670C>T ENSP00000515352.1:n.*670C>T
ENST00000703522.1:c.1318C>T ENSP00000515353.1:p.Arg440Ter
ENST00000703523.1:c.1318C>T ENSP00000515354.1:p.Arg440Ter
ENST00000703524.1:n.841C>T
ENST00000703525.1:n.1513C>T
ENST00000703526.1:n.686C>T
ENST00000703527.1:c.1318C>T ENSP00000515355.1:p.Arg440Ter
ENST00000703528.1:c.1153C>T ENSP00000515356.1:p.Arg385Ter
ENST00000703529.1:n.1513C>T
ENST00000706626.1:c.1318C>T ENSP00000516472.1:p.Arg440Ter
ENST00000706632.1:n.182C>T
ENST00000706634.1:n.1513C>T
ENST00000706635.1:c.1213C>T ENSP00000516475.1:p.Arg405Ter
ENST00000706636.1:c.*670C>T ENSP00000516476.1:n.*670C>T
XM_005247535.3:c.1042C>T XP_005247592.1:p.Arg348Ter
XM_005247535.4:c.1042C>T XP_005247592.1:p.Arg348Ter
XM_005247536.3:c.1318C>T XP_005247593.1:p.Arg440Ter
XM_017006625.2:c.1042C>T XP_016862114.1:p.Arg348Ter
XM_024453599.1:c.1042C>T XP_024309367.1:p.Arg348Ter
XR_001740176.2:n.1513C>T