Canonical Allele Identifier: CA2655179

Gene: PLOD2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.146104306T>C , CM000665.2:g.146104306T>C	GRCh38
NC_000003.11:g.145822093T>C , CM000665.1:g.145822093T>C	GRCh37
NC_000003.10:g.147304783T>C	NCBI36
NG_009251.1:g.62190A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000469350.6:c.568A>G	ENSP00000419963.2:p.Ile190Val
ENST00000480704.2:c.*416A>G	ENSP00000419880.1:n.*416A>G
ENST00000703517.1:n.454A>G
ENST00000703518.1:c.652A>G	ENSP00000515350.1:p.Ile218Val
ENST00000703519.1:n.669A>G
ENST00000703520.1:c.652A>G	ENSP00000515351.1:p.Ile218Val
ENST00000703521.1:c.652A>G	ENSP00000515352.1:p.Ile218Val
ENST00000703522.1:c.652A>G	ENSP00000515353.1:p.Ile218Val
ENST00000703523.1:c.652A>G	ENSP00000515354.1:p.Ile218Val
ENST00000703524.1:n.175A>G
ENST00000703525.1:n.847A>G
ENST00000703527.1:c.652A>G	ENSP00000515355.1:p.Ile218Val
ENST00000703528.1:c.487A>G	ENSP00000515356.1:p.Ile163Val
ENST00000703529.1:n.847A>G
ENST00000706626.1:c.652A>G	ENSP00000516472.1:p.Ile218Val
ENST00000706627.1:n.847A>G
ENST00000706634.1:n.847A>G
ENST00000706635.1:c.652A>G	ENSP00000516475.1:p.Ile218Val
ENST00000706636.1:c.652A>G	ENSP00000516476.1:p.Ile218Val
ENST00000282903.10:c.652A>G MANE Select	ENSP00000282903.5:p.Ile218Val
ENST00000282903.9:c.652A>G	ENSP00000282903.5:p.Ile218Val
ENST00000360060.7:c.652A>G	ENSP00000353170.3:p.Ile218Val
ENST00000469350.5:c.568A>G	ENSP00000419963.1:p.Ile190Val
ENST00000494950.5:c.487A>G	ENSP00000420094.1:p.Ile163Val
NM_000935.2:c.652A>G	NP_000926.2:p.Ile218Val
NM_182943.2:c.652A>G	NP_891988.1:p.Ile218Val
XM_005247535.3:c.376A>G	XP_005247592.1:p.Ile126Val
XM_005247536.3:c.652A>G	XP_005247593.1:p.Ile218Val
XM_005247535.4:c.376A>G	XP_005247592.1:p.Ile126Val
XM_017006625.2:c.376A>G	XP_016862114.1:p.Ile126Val
XM_024453599.1:c.376A>G	XP_024309367.1:p.Ile126Val
XR_001740176.2:n.847A>G
NM_182943.3:c.652A>G MANE Select	NP_891988.1:p.Ile218Val
NM_000935.3:c.652A>G	NP_000926.2:p.Ile218Val