Canonical Allele Identifier: CA16043397
Community Standard Title: NM_182943.3(PLOD2):c.2038C>T (p.Arg680Ter)
Gene: PLOD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.146071125G>A , CM000665.2:g.146071125G>A GRCh38
NC_000003.11:g.145788912G>A , CM000665.1:g.145788912G>A GRCh37
NC_000003.10:g.147271602G>A NCBI36
NG_009251.1:g.95371C>T

Transcript Alleles

HGVS Amino-acid Change
NM_182943.3:c.2038C>T MANE Select NP_891988.1:p.Arg680Ter
ENST00000282903.10:c.2038C>T MANE Select ENSP00000282903.5:p.Arg680Ter
NM_000935.2:c.1975C>T NP_000926.2:p.Arg659Ter
NM_000935.3:c.1975C>T NP_000926.2:p.Arg659Ter
NM_182943.2:c.2038C>T NP_891988.1:p.Arg680Ter
ENST00000282903.9:c.2038C>T ENSP00000282903.5:p.Arg680Ter
ENST00000360060.7:c.1975C>T ENSP00000353170.3:p.Arg659Ter
ENST00000461497.5:c.1018C>T ENSP00000419354.1:p.Arg340Ter
ENST00000469350.6:c.1891C>T ENSP00000419963.2:p.Arg631Ter
ENST00000480704.2:c.*1802C>T ENSP00000419880.1:n.*1802C>T
ENST00000494950.5:c.1873C>T ENSP00000420094.1:p.Arg625Ter
ENST00000495700.1:n.46C>T
ENST00000703517.1:n.579+31630C>T
ENST00000703518.1:c.2038C>T ENSP00000515350.1:p.Arg680Ter
ENST00000703519.1:n.2055C>T
ENST00000703520.1:c.*452C>T ENSP00000515351.1:n.*452C>T
ENST00000703521.1:c.*1390C>T ENSP00000515352.1:n.*1390C>T
ENST00000703522.1:c.2038C>T ENSP00000515353.1:p.Arg680Ter
ENST00000703523.1:c.1975C>T ENSP00000515354.1:p.Arg659Ter
ENST00000703524.1:n.1888C>T
ENST00000703525.1:n.4390C>T
ENST00000703526.1:n.1406C>T
ENST00000703527.1:c.2038C>T ENSP00000515355.1:p.Arg680Ter
ENST00000703528.1:c.1440-1031C>T ENSP00000515356.1:n.1440-1031C>T
ENST00000706626.1:c.1861C>T ENSP00000516472.1:p.Arg621Ter
ENST00000706631.1:n.2483C>T
ENST00000706632.1:n.902C>T
ENST00000706633.1:n.3010C>T
ENST00000706634.1:n.3199C>T
ENST00000706635.1:c.1870C>T ENSP00000516475.1:p.Arg624Ter
ENST00000706636.1:c.*1327C>T ENSP00000516476.1:n.*1327C>T
XM_005247535.3:c.1762C>T XP_005247592.1:p.Arg588Ter
XM_005247535.4:c.1762C>T XP_005247592.1:p.Arg588Ter
XM_017006625.2:c.1762C>T XP_016862114.1:p.Arg588Ter
XM_024453599.1:c.1699C>T XP_024309367.1:p.Arg567Ter
XR_001740176.2:n.2306C>T