Canonical Allele Identifier: CA2654976

Gene: PLOD2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.146085230C>G , CM000665.2:g.146085230C>G	GRCh38
NC_000003.11:g.145803017C>G , CM000665.1:g.145803017C>G	GRCh37
NC_000003.10:g.147285707C>G	NCBI36
NG_009251.1:g.81266G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000469350.6:c.1087G>C	ENSP00000419963.2:p.Val363Leu
ENST00000480704.2:c.*935G>C	ENSP00000419880.1:n.*935G>C
ENST00000703517.1:n.579+17525G>C
ENST00000703518.1:c.1171G>C	ENSP00000515350.1:p.Val391Leu
ENST00000703519.1:n.1188G>C
ENST00000703520.1:c.1171G>C	ENSP00000515351.1:p.Val391Leu
ENST00000703521.1:c.*523G>C	ENSP00000515352.1:n.*523G>C
ENST00000703522.1:c.1171G>C	ENSP00000515353.1:p.Val391Leu
ENST00000703523.1:c.1171G>C	ENSP00000515354.1:p.Val391Leu
ENST00000703524.1:n.694G>C
ENST00000703525.1:n.1366G>C
ENST00000703526.1:n.539G>C
ENST00000703527.1:c.1171G>C	ENSP00000515355.1:p.Val391Leu
ENST00000703528.1:c.1006G>C	ENSP00000515356.1:p.Val336Leu
ENST00000703529.1:n.1366G>C
ENST00000706626.1:c.1171G>C	ENSP00000516472.1:p.Val391Leu
ENST00000706634.1:n.1366G>C
ENST00000706635.1:c.1127+1557G>C	ENSP00000516475.1:n.1127+1557G>C
ENST00000706636.1:c.*523G>C	ENSP00000516476.1:n.*523G>C
ENST00000282903.10:c.1171G>C MANE Select	ENSP00000282903.5:p.Val391Leu
ENST00000282903.9:c.1171G>C	ENSP00000282903.5:p.Val391Leu
ENST00000360060.7:c.1171G>C	ENSP00000353170.3:p.Val391Leu
ENST00000460520.1:n.396G>C
ENST00000461497.5:c.151G>C	ENSP00000419354.1:p.Val51Leu
ENST00000478436.1:n.1506G>C
ENST00000494950.5:c.1006G>C	ENSP00000420094.1:p.Val336Leu
NM_000935.2:c.1171G>C	NP_000926.2:p.Val391Leu
NM_182943.2:c.1171G>C	NP_891988.1:p.Val391Leu
XM_005247535.3:c.895G>C	XP_005247592.1:p.Val299Leu
XM_005247536.3:c.1171G>C	XP_005247593.1:p.Val391Leu
XM_005247535.4:c.895G>C	XP_005247592.1:p.Val299Leu
XM_017006625.2:c.895G>C	XP_016862114.1:p.Val299Leu
XM_024453599.1:c.895G>C	XP_024309367.1:p.Val299Leu
XR_001740176.2:n.1366G>C
NM_182943.3:c.1171G>C MANE Select	NP_891988.1:p.Val391Leu
NM_000935.3:c.1171G>C	NP_000926.2:p.Val391Leu