Canonical Allele Identifier: CA16604821
Gene: PLOD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 391826
ClinVar RCV Id: RCV000427467
dbSNP Id: rs1057524250

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.146071323A>G , CM000665.2:g.146071323A>G GRCh38
NC_000003.11:g.145789110A>G , CM000665.1:g.145789110A>G GRCh37
NC_000003.10:g.147271800A>G NCBI36
NG_009251.1:g.95173T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000469350.6:c.1802T>C ENSP00000419963.2:p.Phe601Ser
ENST00000480704.2:c.*1713T>C ENSP00000419880.1:n.*1713T>C
ENST00000703517.1:n.579+31432T>C
ENST00000703518.1:c.1949T>C ENSP00000515350.1:p.Phe650Ser
ENST00000703519.1:n.1966T>C
ENST00000703520.1:c.*363T>C ENSP00000515351.1:n.*363T>C
ENST00000703521.1:c.*1301T>C ENSP00000515352.1:n.*1301T>C
ENST00000703522.1:c.1949T>C ENSP00000515353.1:p.Phe650Ser
ENST00000703523.1:c.1886T>C ENSP00000515354.1:p.Phe629Ser
ENST00000703524.1:n.1769T>C
ENST00000703525.1:n.4301T>C
ENST00000703526.1:n.1317T>C
ENST00000703527.1:c.1949T>C ENSP00000515355.1:p.Phe650Ser
ENST00000703528.1:c.1440-1229T>C ENSP00000515356.1:n.1440-1229T>C
ENST00000706626.1:c.1772T>C ENSP00000516472.1:p.Phe591Ser
ENST00000706631.1:n.2394T>C
ENST00000706632.1:n.813T>C
ENST00000706633.1:n.2921T>C
ENST00000706634.1:n.3110T>C
ENST00000706635.1:c.1781T>C ENSP00000516475.1:p.Phe594Ser
ENST00000706636.1:c.*1238T>C ENSP00000516476.1:n.*1238T>C
ENST00000282903.10:c.1949T>C MANE Select ENSP00000282903.5:p.Phe650Ser
ENST00000282903.9:c.1949T>C ENSP00000282903.5:p.Phe650Ser
ENST00000360060.7:c.1886T>C ENSP00000353170.3:p.Phe629Ser
ENST00000461497.5:c.929T>C ENSP00000419354.1:p.Phe310Ser
ENST00000494950.5:c.1784T>C ENSP00000420094.1:p.Phe595Ser
NM_000935.2:c.1886T>C NP_000926.2:p.Phe629Ser
NM_182943.2:c.1949T>C NP_891988.1:p.Phe650Ser
XM_005247535.3:c.1673T>C XP_005247592.1:p.Phe558Ser
XM_005247535.4:c.1673T>C XP_005247592.1:p.Phe558Ser
XM_017006625.2:c.1673T>C XP_016862114.1:p.Phe558Ser
XM_024453599.1:c.1610T>C XP_024309367.1:p.Phe537Ser
XR_001740176.2:n.2217T>C
NM_182943.3:c.1949T>C MANE Select NP_891988.1:p.Phe650Ser
NM_000935.3:c.1886T>C NP_000926.2:p.Phe629Ser