Canonical Allele Identifier: CA354881577

Gene: PLOD2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.146070724T>A , CM000665.2:g.146070724T>A	GRCh38
NC_000003.11:g.145788511T>A , CM000665.1:g.145788511T>A	GRCh37
NC_000003.10:g.147271201T>A	NCBI36
NG_009251.1:g.95772A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_182943.3:c.2270A>T MANE Select	NP_891988.1:p.Asp757Val
ENST00000282903.10:c.2270A>T MANE Select	ENSP00000282903.5:p.Asp757Val
NM_000935.2:c.2207A>T	NP_000926.2:p.Asp736Val
NM_000935.3:c.2207A>T	NP_000926.2:p.Asp736Val
NM_182943.2:c.2270A>T	NP_891988.1:p.Asp757Val
ENST00000282903.9:c.2270A>T	ENSP00000282903.5:p.Asp757Val
ENST00000360060.7:c.2207A>T	ENSP00000353170.3:p.Asp736Val
ENST00000461497.5:c.1250A>T	ENSP00000419354.1:p.Asp417Val
ENST00000469350.6:c.2123A>T	ENSP00000419963.2:p.Asp708Val
ENST00000480704.2:c.*2034A>T	ENSP00000419880.1:n.*2034A>T
ENST00000494950.5:c.2105A>T	ENSP00000420094.1:p.Asp702Val
ENST00000495700.1:n.278A>T
ENST00000703517.1:n.579+32031A>T
ENST00000703518.1:c.2270A>T	ENSP00000515350.1:p.Asp757Val
ENST00000703519.1:n.2287A>T
ENST00000703520.1:c.*684A>T	ENSP00000515351.1:n.*684A>T
ENST00000703521.1:c.*1622A>T	ENSP00000515352.1:n.*1622A>T
ENST00000703522.1:c.2270A>T	ENSP00000515353.1:p.Asp757Val
ENST00000703523.1:c.2207A>T	ENSP00000515354.1:p.Asp736Val
ENST00000703524.1:n.2120A>T
ENST00000703525.1:n.4622A>T
ENST00000703526.1:n.1638A>T
ENST00000703527.1:c.2270A>T	ENSP00000515355.1:p.Asp757Val
ENST00000703528.1:c.1440-630A>T	ENSP00000515356.1:n.1440-630A>T
ENST00000706626.1:c.2093A>T	ENSP00000516472.1:p.Asp698Val
ENST00000706631.1:n.2715A>T
ENST00000706632.1:n.1134A>T
ENST00000706633.1:n.3242A>T
ENST00000706634.1:n.3431A>T
ENST00000706635.1:c.2102A>T	ENSP00000516475.1:p.Asp701Val
ENST00000706636.1:c.*1559A>T	ENSP00000516476.1:n.*1559A>T
XM_005247535.3:c.1994A>T	XP_005247592.1:p.Asp665Val
XM_005247535.4:c.1994A>T	XP_005247592.1:p.Asp665Val
XM_017006625.2:c.1994A>T	XP_016862114.1:p.Asp665Val
XM_024453599.1:c.1931A>T	XP_024309367.1:p.Asp644Val
XR_001740176.2:n.2538A>T