Canonical Allele Identifier: CA84500173
Community Standard Title: NM_182943.3(PLOD2):c.1958C>G (p.Pro653Arg)
Gene: PLOD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.146071314G>C , CM000665.2:g.146071314G>C GRCh38
NC_000003.11:g.145789101G>C , CM000665.1:g.145789101G>C GRCh37
NC_000003.10:g.147271791G>C NCBI36
NG_009251.1:g.95182C>G

Transcript Alleles

HGVS Amino-acid Change
NM_182943.3:c.1958C>G MANE Select NP_891988.1:p.Pro653Arg
ENST00000282903.10:c.1958C>G MANE Select ENSP00000282903.5:p.Pro653Arg
NM_000935.2:c.1895C>G NP_000926.2:p.Pro632Arg
NM_000935.3:c.1895C>G NP_000926.2:p.Pro632Arg
NM_182943.2:c.1958C>G NP_891988.1:p.Pro653Arg
ENST00000282903.9:c.1958C>G ENSP00000282903.5:p.Pro653Arg
ENST00000360060.7:c.1895C>G ENSP00000353170.3:p.Pro632Arg
ENST00000461497.5:c.938C>G ENSP00000419354.1:p.Pro313Arg
ENST00000469350.6:c.1811C>G ENSP00000419963.2:p.Pro604Arg
ENST00000480704.2:c.*1722C>G ENSP00000419880.1:n.*1722C>G
ENST00000494950.5:c.1793C>G ENSP00000420094.1:p.Pro598Arg
ENST00000703517.1:n.579+31441C>G
ENST00000703518.1:c.1958C>G ENSP00000515350.1:p.Pro653Arg
ENST00000703519.1:n.1975C>G
ENST00000703520.1:c.*372C>G ENSP00000515351.1:n.*372C>G
ENST00000703521.1:c.*1310C>G ENSP00000515352.1:n.*1310C>G
ENST00000703522.1:c.1958C>G ENSP00000515353.1:p.Pro653Arg
ENST00000703523.1:c.1895C>G ENSP00000515354.1:p.Pro632Arg
ENST00000703524.1:n.1778C>G
ENST00000703525.1:n.4310C>G
ENST00000703526.1:n.1326C>G
ENST00000703527.1:c.1958C>G ENSP00000515355.1:p.Pro653Arg
ENST00000703528.1:c.1440-1220C>G ENSP00000515356.1:n.1440-1220C>G
ENST00000706626.1:c.1781C>G ENSP00000516472.1:p.Pro594Arg
ENST00000706631.1:n.2403C>G
ENST00000706632.1:n.822C>G
ENST00000706633.1:n.2930C>G
ENST00000706634.1:n.3119C>G
ENST00000706635.1:c.1790C>G ENSP00000516475.1:p.Pro597Arg
ENST00000706636.1:c.*1247C>G ENSP00000516476.1:n.*1247C>G
XM_005247535.3:c.1682C>G XP_005247592.1:p.Pro561Arg
XM_005247535.4:c.1682C>G XP_005247592.1:p.Pro561Arg
XM_017006625.2:c.1682C>G XP_016862114.1:p.Pro561Arg
XM_024453599.1:c.1619C>G XP_024309367.1:p.Pro540Arg
XR_001740176.2:n.2226C>G