Canonical Allele Identifier: CA354894483
Community Standard Title: NM_182943.3(PLOD2):c.648C>A (p.Cys216Ter)
Gene: PLOD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.146104310G>T , CM000665.2:g.146104310G>T GRCh38
NC_000003.11:g.145822097G>T , CM000665.1:g.145822097G>T GRCh37
NC_000003.10:g.147304787G>T NCBI36
NG_009251.1:g.62186C>A

Transcript Alleles

HGVS Amino-acid Change
NM_182943.3:c.648C>A MANE Select NP_891988.1:p.Cys216Ter
ENST00000282903.10:c.648C>A MANE Select ENSP00000282903.5:p.Cys216Ter
NM_000935.2:c.648C>A NP_000926.2:p.Cys216Ter
NM_000935.3:c.648C>A NP_000926.2:p.Cys216Ter
NM_182943.2:c.648C>A NP_891988.1:p.Cys216Ter
ENST00000282903.9:c.648C>A ENSP00000282903.5:p.Cys216Ter
ENST00000360060.7:c.648C>A ENSP00000353170.3:p.Cys216Ter
ENST00000469350.5:c.564C>A ENSP00000419963.1:p.Cys188Ter
ENST00000469350.6:c.564C>A ENSP00000419963.2:p.Cys188Ter
ENST00000480704.2:c.*412C>A ENSP00000419880.1:n.*412C>A
ENST00000494950.5:c.483C>A ENSP00000420094.1:p.Cys161Ter
ENST00000703517.1:n.450C>A
ENST00000703518.1:c.648C>A ENSP00000515350.1:p.Cys216Ter
ENST00000703519.1:n.665C>A
ENST00000703520.1:c.648C>A ENSP00000515351.1:p.Cys216Ter
ENST00000703521.1:c.648C>A ENSP00000515352.1:p.Cys216Ter
ENST00000703522.1:c.648C>A ENSP00000515353.1:p.Cys216Ter
ENST00000703523.1:c.648C>A ENSP00000515354.1:p.Cys216Ter
ENST00000703524.1:n.171C>A
ENST00000703525.1:n.843C>A
ENST00000703527.1:c.648C>A ENSP00000515355.1:p.Cys216Ter
ENST00000703528.1:c.483C>A ENSP00000515356.1:p.Cys161Ter
ENST00000703529.1:n.843C>A
ENST00000706626.1:c.648C>A ENSP00000516472.1:p.Cys216Ter
ENST00000706627.1:n.843C>A
ENST00000706634.1:n.843C>A
ENST00000706635.1:c.648C>A ENSP00000516475.1:p.Cys216Ter
ENST00000706636.1:c.648C>A ENSP00000516476.1:p.Cys216Ter
XM_005247535.3:c.372C>A XP_005247592.1:p.Cys124Ter
XM_005247535.4:c.372C>A XP_005247592.1:p.Cys124Ter
XM_005247536.3:c.648C>A XP_005247593.1:p.Cys216Ter
XM_017006625.2:c.372C>A XP_016862114.1:p.Cys124Ter
XM_024453599.1:c.372C>A XP_024309367.1:p.Cys124Ter
XR_001740176.2:n.843C>A