Canonical Allele Identifier: CA2654679

Gene: PLOD2

Linked Data

• ClinVar Variation Id: 343644
• ClinVar RCV Id: RCV000288228 ; RCV002057848
• dbSNP Id: rs376009508
• ExAC: 3:145788815 A / G
• gnomAD v2: 3-145788815-A-G
• gnomAD v3: 3-146071028-A-G
• gnomAD v4: 3-146071028-A-G
• MyVariant Identifiers: chr3:g.145788815A>G (hg19) ; chr3:g.146071028A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.146071028A>G , CM000665.2:g.146071028A>G	GRCh38
NC_000003.11:g.145788815A>G , CM000665.1:g.145788815A>G	GRCh37
NC_000003.10:g.147271505A>G	NCBI36
NG_009251.1:g.95468T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000469350.6:c.1974+14T>C	ENSP00000419963.2:n.1974+14T>C
ENST00000480704.2:c.*1885+14T>C	ENSP00000419880.1:n.*1885+14T>C
ENST00000703517.1:n.579+31727T>C
ENST00000703518.1:c.2121+14T>C	ENSP00000515350.1:n.2121+14T>C
ENST00000703519.1:n.2138+14T>C
ENST00000703520.1:c.*535+14T>C	ENSP00000515351.1:n.*535+14T>C
ENST00000703521.1:c.*1473+14T>C	ENSP00000515352.1:n.*1473+14T>C
ENST00000703522.1:c.2121+14T>C	ENSP00000515353.1:n.2121+14T>C
ENST00000703523.1:c.2058+14T>C	ENSP00000515354.1:n.2058+14T>C
ENST00000703524.1:n.1971+14T>C
ENST00000703525.1:n.4473+14T>C
ENST00000703526.1:n.1489+14T>C
ENST00000703527.1:c.2121+14T>C	ENSP00000515355.1:n.2121+14T>C
ENST00000703528.1:c.1440-934T>C	ENSP00000515356.1:n.1440-934T>C
ENST00000706626.1:c.1944+14T>C	ENSP00000516472.1:n.1944+14T>C
ENST00000706631.1:n.2566+14T>C
ENST00000706632.1:n.985+14T>C
ENST00000706633.1:n.3093+14T>C
ENST00000706634.1:n.3282+14T>C
ENST00000706635.1:c.1953+14T>C	ENSP00000516475.1:n.1953+14T>C
ENST00000706636.1:c.*1410+14T>C	ENSP00000516476.1:n.*1410+14T>C
ENST00000282903.10:c.2121+14T>C MANE Select	ENSP00000282903.5:n.2121+14T>C
ENST00000282903.9:c.2121+14T>C	ENSP00000282903.5:n.2121+14T>C
ENST00000360060.7:c.2058+14T>C	ENSP00000353170.3:n.2058+14T>C
ENST00000461497.5:c.1101+14T>C	ENSP00000419354.1:n.1101+14T>C
ENST00000494950.5:c.1956+14T>C	ENSP00000420094.1:n.1956+14T>C
ENST00000495700.1:n.129+14T>C
NM_000935.2:c.2058+14T>C	NP_000926.2:n.2058+14T>C
NM_182943.2:c.2121+14T>C	NP_891988.1:n.2121+14T>C
XM_005247535.3:c.1845+14T>C	XP_005247592.1:n.1845+14T>C
XM_005247535.4:c.1845+14T>C	XP_005247592.1:n.1845+14T>C
XM_017006625.2:c.1845+14T>C	XP_016862114.1:n.1845+14T>C
XM_024453599.1:c.1782+14T>C	XP_024309367.1:n.1782+14T>C
XR_001740176.2:n.2389+14T>C
NM_182943.3:c.2121+14T>C MANE Select	NP_891988.1:n.2121+14T>C
NM_000935.3:c.2058+14T>C	NP_000926.2:n.2058+14T>C