Canonical Allele Identifier: CA2655022

Gene: PLOD2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.146086788T>G , CM000665.2:g.146086788T>G	GRCh38
NC_000003.11:g.145804575T>G , CM000665.1:g.145804575T>G	GRCh37
NC_000003.10:g.147287265T>G	NCBI36
NG_009251.1:g.79708A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_182943.3:c.1126A>C MANE Select	NP_891988.1:p.Met376Leu
ENST00000282903.10:c.1126A>C MANE Select	ENSP00000282903.5:p.Met376Leu
NM_000935.2:c.1126A>C	NP_000926.2:p.Met376Leu
NM_000935.3:c.1126A>C	NP_000926.2:p.Met376Leu
NM_182943.2:c.1126A>C	NP_891988.1:p.Met376Leu
ENST00000282903.9:c.1126A>C	ENSP00000282903.5:p.Met376Leu
ENST00000360060.7:c.1126A>C	ENSP00000353170.3:p.Met376Leu
ENST00000460520.1:n.351A>C
ENST00000469350.6:c.1042A>C	ENSP00000419963.2:p.Met348Leu
ENST00000480704.2:c.*890A>C	ENSP00000419880.1:n.*890A>C
ENST00000494950.5:c.961A>C	ENSP00000420094.1:p.Met321Leu
ENST00000703517.1:n.579+15967A>C
ENST00000703518.1:c.1126A>C	ENSP00000515350.1:p.Met376Leu
ENST00000703519.1:n.1143A>C
ENST00000703520.1:c.1126A>C	ENSP00000515351.1:p.Met376Leu
ENST00000703521.1:c.*478A>C	ENSP00000515352.1:n.*478A>C
ENST00000703522.1:c.1126A>C	ENSP00000515353.1:p.Met376Leu
ENST00000703523.1:c.1126A>C	ENSP00000515354.1:p.Met376Leu
ENST00000703524.1:n.649A>C
ENST00000703525.1:n.1321A>C
ENST00000703526.1:n.494A>C
ENST00000703527.1:c.1126A>C	ENSP00000515355.1:p.Met376Leu
ENST00000703528.1:c.961A>C	ENSP00000515356.1:p.Met321Leu
ENST00000703529.1:n.1321A>C
ENST00000706626.1:c.1126A>C	ENSP00000516472.1:p.Met376Leu
ENST00000706634.1:n.1321A>C
ENST00000706635.1:c.1126A>C	ENSP00000516475.1:p.Ile376Leu
ENST00000706636.1:c.*478A>C	ENSP00000516476.1:n.*478A>C
XM_005247535.3:c.850A>C	XP_005247592.1:p.Met284Leu
XM_005247535.4:c.850A>C	XP_005247592.1:p.Met284Leu
XM_005247536.3:c.1126A>C	XP_005247593.1:p.Met376Leu
XM_017006625.2:c.850A>C	XP_016862114.1:p.Met284Leu
XM_024453599.1:c.850A>C	XP_024309367.1:p.Met284Leu
XR_001740176.2:n.1321A>C