Canonical Allele Identifier: CA15277221

Gene: PLOD2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.146073161A>G , CM000665.2:g.146073161A>G	GRCh38
NC_000003.11:g.145790948A>G , CM000665.1:g.145790948A>G	GRCh37
NC_000003.10:g.147273638A>G	NCBI36
NG_009251.1:g.93335T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_182943.3:c.1743+126T>C MANE Select	NP_891988.1:n.1743+126T>C
ENST00000282903.10:c.1743+126T>C MANE Select	ENSP00000282903.5:n.1743+126T>C
NM_000935.2:c.1680+126T>C	NP_000926.2:n.1680+126T>C
NM_000935.3:c.1680+126T>C	NP_000926.2:n.1680+126T>C
NM_182943.2:c.1743+126T>C	NP_891988.1:n.1743+126T>C
ENST00000282903.9:c.1743+126T>C	ENSP00000282903.5:n.1743+126T>C
ENST00000360060.7:c.1680+126T>C	ENSP00000353170.3:n.1680+126T>C
ENST00000461497.5:c.723+126T>C	ENSP00000419354.1:n.723+126T>C
ENST00000469350.6:c.1596+126T>C	ENSP00000419963.2:n.1596+126T>C
ENST00000475505.1:n.371+126T>C
ENST00000480704.2:c.*1507+126T>C	ENSP00000419880.1:n.*1507+126T>C
ENST00000494950.5:c.1578+126T>C	ENSP00000420094.1:n.1578+126T>C
ENST00000703517.1:n.579+29594T>C
ENST00000703518.1:c.1743+126T>C	ENSP00000515350.1:n.1743+126T>C
ENST00000703519.1:n.1760+126T>C
ENST00000703520.1:c.*157+126T>C	ENSP00000515351.1:n.*157+126T>C
ENST00000703521.1:c.*1095+126T>C	ENSP00000515352.1:n.*1095+126T>C
ENST00000703522.1:c.1743+126T>C	ENSP00000515353.1:n.1743+126T>C
ENST00000703523.1:c.1680+126T>C	ENSP00000515354.1:n.1680+126T>C
ENST00000703524.1:n.1563+126T>C
ENST00000703525.1:n.4095+126T>C
ENST00000703526.1:n.1111+126T>C
ENST00000703527.1:c.1743+126T>C	ENSP00000515355.1:n.1743+126T>C
ENST00000703528.1:c.1440-3067T>C	ENSP00000515356.1:n.1440-3067T>C
ENST00000703529.1:n.2064T>C
ENST00000706626.1:c.1566+126T>C	ENSP00000516472.1:n.1566+126T>C
ENST00000706631.1:n.2188+126T>C
ENST00000706632.1:n.607+126T>C
ENST00000706633.1:n.1083T>C
ENST00000706634.1:n.2904+126T>C
ENST00000706635.1:c.1575+126T>C	ENSP00000516475.1:n.1575+126T>C
ENST00000706636.1:c.*1032+126T>C	ENSP00000516476.1:n.*1032+126T>C
XM_005247535.3:c.1467+126T>C	XP_005247592.1:n.1467+126T>C
XM_005247535.4:c.1467+126T>C	XP_005247592.1:n.1467+126T>C
XM_017006625.2:c.1467+126T>C	XP_016862114.1:n.1467+126T>C
XM_024453599.1:c.1404+126T>C	XP_024309367.1:n.1404+126T>C
XR_001740176.2:n.2011+126T>C