Canonical Allele Identifier: CA118946
Community Standard Title: NM_182943.3(PLOD2):c.1886C>T (p.Thr629Ile)
Gene: PLOD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.146071386G>A , CM000665.2:g.146071386G>A GRCh38
NC_000003.11:g.145789173G>A , CM000665.1:g.145789173G>A GRCh37
NC_000003.10:g.147271863G>A NCBI36
NG_009251.1:g.95110C>T

Transcript Alleles

HGVS Amino-acid Change
NM_182943.3:c.1886C>T MANE Select NP_891988.1:p.Thr629Ile
ENST00000282903.10:c.1886C>T MANE Select ENSP00000282903.5:p.Thr629Ile
NM_000935.2:c.1823C>T NP_000926.2:p.Thr608Ile
NM_000935.3:c.1823C>T NP_000926.2:p.Thr608Ile
NM_182943.2:c.1886C>T NP_891988.1:p.Thr629Ile
ENST00000282903.9:c.1886C>T ENSP00000282903.5:p.Thr629Ile
ENST00000360060.7:c.1823C>T ENSP00000353170.3:p.Thr608Ile
ENST00000461497.5:c.866C>T ENSP00000419354.1:p.Thr289Ile
ENST00000469350.6:c.1739C>T ENSP00000419963.2:p.Thr580Ile
ENST00000480704.2:c.*1650C>T ENSP00000419880.1:n.*1650C>T
ENST00000494950.5:c.1721C>T ENSP00000420094.1:p.Thr574Ile
ENST00000703517.1:n.579+31369C>T
ENST00000703518.1:c.1886C>T ENSP00000515350.1:p.Thr629Ile
ENST00000703519.1:n.1903C>T
ENST00000703520.1:c.*300C>T ENSP00000515351.1:n.*300C>T
ENST00000703521.1:c.*1238C>T ENSP00000515352.1:n.*1238C>T
ENST00000703522.1:c.1886C>T ENSP00000515353.1:p.Thr629Ile
ENST00000703523.1:c.1823C>T ENSP00000515354.1:p.Thr608Ile
ENST00000703524.1:n.1706C>T
ENST00000703525.1:n.4238C>T
ENST00000703526.1:n.1254C>T
ENST00000703527.1:c.1886C>T ENSP00000515355.1:p.Thr629Ile
ENST00000703528.1:c.1440-1292C>T ENSP00000515356.1:n.1440-1292C>T
ENST00000706626.1:c.1709C>T ENSP00000516472.1:p.Thr570Ile
ENST00000706631.1:n.2331C>T
ENST00000706632.1:n.750C>T
ENST00000706633.1:n.2858C>T
ENST00000706634.1:n.3047C>T
ENST00000706635.1:c.1718C>T ENSP00000516475.1:p.Thr573Ile
ENST00000706636.1:c.*1175C>T ENSP00000516476.1:n.*1175C>T
XM_005247535.3:c.1610C>T XP_005247592.1:p.Thr537Ile
XM_005247535.4:c.1610C>T XP_005247592.1:p.Thr537Ile
XM_017006625.2:c.1610C>T XP_016862114.1:p.Thr537Ile
XM_024453599.1:c.1547C>T XP_024309367.1:p.Thr516Ile
XR_001740176.2:n.2154C>T