Canonical Allele Identifier: CA2654682

Gene: PLOD2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.146071053C>T , CM000665.2:g.146071053C>T	GRCh38
NC_000003.11:g.145788840C>T , CM000665.1:g.145788840C>T	GRCh37
NC_000003.10:g.147271530C>T	NCBI36
NG_009251.1:g.95443G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000469350.6:c.1963G>A	ENSP00000419963.2:p.Glu655Lys
ENST00000480704.2:c.*1874G>A	ENSP00000419880.1:n.*1874G>A
ENST00000703517.1:n.579+31702G>A
ENST00000703518.1:c.2110G>A	ENSP00000515350.1:p.Glu704Lys
ENST00000703519.1:n.2127G>A
ENST00000703520.1:c.*524G>A	ENSP00000515351.1:n.*524G>A
ENST00000703521.1:c.*1462G>A	ENSP00000515352.1:n.*1462G>A
ENST00000703522.1:c.2110G>A	ENSP00000515353.1:p.Glu704Lys
ENST00000703523.1:c.2047G>A	ENSP00000515354.1:p.Glu683Lys
ENST00000703524.1:n.1960G>A
ENST00000703525.1:n.4462G>A
ENST00000703526.1:n.1478G>A
ENST00000703527.1:c.2110G>A	ENSP00000515355.1:p.Glu704Lys
ENST00000703528.1:c.1440-959G>A	ENSP00000515356.1:n.1440-959G>A
ENST00000706626.1:c.1933G>A	ENSP00000516472.1:p.Glu645Lys
ENST00000706631.1:n.2555G>A
ENST00000706632.1:n.974G>A
ENST00000706633.1:n.3082G>A
ENST00000706634.1:n.3271G>A
ENST00000706635.1:c.1942G>A	ENSP00000516475.1:p.Glu648Lys
ENST00000706636.1:c.*1399G>A	ENSP00000516476.1:n.*1399G>A
ENST00000282903.10:c.2110G>A MANE Select	ENSP00000282903.5:p.Glu704Lys
ENST00000282903.9:c.2110G>A	ENSP00000282903.5:p.Glu704Lys
ENST00000360060.7:c.2047G>A	ENSP00000353170.3:p.Glu683Lys
ENST00000461497.5:c.1090G>A	ENSP00000419354.1:p.Glu364Lys
ENST00000494950.5:c.1945G>A	ENSP00000420094.1:p.Glu649Lys
ENST00000495700.1:n.118G>A
NM_000935.2:c.2047G>A	NP_000926.2:p.Glu683Lys
NM_182943.2:c.2110G>A	NP_891988.1:p.Glu704Lys
XM_005247535.3:c.1834G>A	XP_005247592.1:p.Glu612Lys
XM_005247535.4:c.1834G>A	XP_005247592.1:p.Glu612Lys
XM_017006625.2:c.1834G>A	XP_016862114.1:p.Glu612Lys
XM_024453599.1:c.1771G>A	XP_024309367.1:p.Glu591Lys
XR_001740176.2:n.2378G>A
NM_182943.3:c.2110G>A MANE Select	NP_891988.1:p.Glu704Lys
NM_000935.3:c.2047G>A	NP_000926.2:p.Glu683Lys