Canonical Allele Identifier: CA240612

Gene: PLOD2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.146076820A>G , CM000665.2:g.146076820A>G	GRCh38
NC_000003.11:g.145794607A>G , CM000665.1:g.145794607A>G	GRCh37
NC_000003.10:g.147277297A>G	NCBI36
NG_009251.1:g.89676T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000469350.6:c.1492T>C	ENSP00000419963.2:p.Tyr498His
ENST00000480704.2:c.*1403T>C	ENSP00000419880.1:n.*1403T>C
ENST00000703517.1:n.579+25935T>C
ENST00000703518.1:c.1639T>C	ENSP00000515350.1:p.Tyr547His
ENST00000703519.1:n.1656T>C
ENST00000703520.1:c.*53T>C	ENSP00000515351.1:n.*53T>C
ENST00000703521.1:c.*991T>C	ENSP00000515352.1:n.*991T>C
ENST00000703522.1:c.1639T>C	ENSP00000515353.1:p.Tyr547His
ENST00000703523.1:c.1576T>C	ENSP00000515354.1:p.Tyr526His
ENST00000703524.1:n.1459T>C
ENST00000703525.1:n.3991T>C
ENST00000703526.1:n.1007T>C
ENST00000703527.1:c.1639T>C	ENSP00000515355.1:p.Tyr547His
ENST00000703528.1:c.1439+35T>C	ENSP00000515356.1:n.1439+35T>C
ENST00000703529.1:n.1834T>C
ENST00000706626.1:c.1500+2296T>C	ENSP00000516472.1:n.1500+2296T>C
ENST00000706632.1:n.503T>C
ENST00000706634.1:n.2800T>C
ENST00000706635.1:c.1471T>C	ENSP00000516475.1:p.Tyr491His
ENST00000706636.1:c.*928T>C	ENSP00000516476.1:n.*928T>C
ENST00000282903.10:c.1639T>C MANE Select	ENSP00000282903.5:p.Tyr547His
ENST00000282903.9:c.1639T>C	ENSP00000282903.5:p.Tyr547His
ENST00000360060.7:c.1576T>C	ENSP00000353170.3:p.Tyr526His
ENST00000461497.5:c.619T>C	ENSP00000419354.1:p.Tyr207His
ENST00000478436.1:n.2940T>C
ENST00000494950.5:c.1474T>C	ENSP00000420094.1:p.Tyr492His
NM_000935.2:c.1576T>C	NP_000926.2:p.Tyr526His
NM_182943.2:c.1639T>C	NP_891988.1:p.Tyr547His
XM_005247535.3:c.1363T>C	XP_005247592.1:p.Tyr455His
XM_005247535.4:c.1363T>C	XP_005247592.1:p.Tyr455His
XM_017006625.2:c.1363T>C	XP_016862114.1:p.Tyr455His
XM_024453599.1:c.1300T>C	XP_024309367.1:p.Tyr434His
XR_001740176.2:n.1907T>C
NM_182943.3:c.1639T>C MANE Select	NP_891988.1:p.Tyr547His
NM_000935.3:c.1576T>C	NP_000926.2:p.Tyr526His