Canonical Allele Identifier: CA84513472
Community Standard Title: NM_182943.3(PLOD2):c.1280A>G (p.Asn427Ser)
Gene: PLOD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.146081816T>C , CM000665.2:g.146081816T>C GRCh38
NC_000003.11:g.145799603T>C , CM000665.1:g.145799603T>C GRCh37
NC_000003.10:g.147282293T>C NCBI36
NG_009251.1:g.84680A>G

Transcript Alleles

HGVS Amino-acid Change
NM_182943.3:c.1280A>G MANE Select NP_891988.1:p.Asn427Ser
ENST00000282903.10:c.1280A>G MANE Select ENSP00000282903.5:p.Asn427Ser
NM_000935.2:c.1280A>G NP_000926.2:p.Asn427Ser
NM_000935.3:c.1280A>G NP_000926.2:p.Asn427Ser
NM_182943.2:c.1280A>G NP_891988.1:p.Asn427Ser
ENST00000282903.9:c.1280A>G ENSP00000282903.5:p.Asn427Ser
ENST00000360060.7:c.1280A>G ENSP00000353170.3:p.Asn427Ser
ENST00000460520.1:n.505A>G
ENST00000461497.5:c.260A>G ENSP00000419354.1:p.Asn87Ser
ENST00000469350.6:c.1196A>G ENSP00000419963.2:p.Asn399Ser
ENST00000478436.1:n.1615A>G
ENST00000480704.2:c.*1044A>G ENSP00000419880.1:n.*1044A>G
ENST00000494950.5:c.1115A>G ENSP00000420094.1:p.Asn372Ser
ENST00000703517.1:n.579+20939A>G
ENST00000703518.1:c.1280A>G ENSP00000515350.1:p.Asn427Ser
ENST00000703519.1:n.1297A>G
ENST00000703520.1:c.1280A>G ENSP00000515351.1:p.Asn427Ser
ENST00000703521.1:c.*632A>G ENSP00000515352.1:n.*632A>G
ENST00000703522.1:c.1280A>G ENSP00000515353.1:p.Asn427Ser
ENST00000703523.1:c.1280A>G ENSP00000515354.1:p.Asn427Ser
ENST00000703524.1:n.803A>G
ENST00000703525.1:n.1475A>G
ENST00000703526.1:n.648A>G
ENST00000703527.1:c.1280A>G ENSP00000515355.1:p.Asn427Ser
ENST00000703528.1:c.1115A>G ENSP00000515356.1:p.Asn372Ser
ENST00000703529.1:n.1475A>G
ENST00000706626.1:c.1280A>G ENSP00000516472.1:p.Asn427Ser
ENST00000706632.1:n.144A>G
ENST00000706634.1:n.1475A>G
ENST00000706635.1:c.1175A>G ENSP00000516475.1:p.Asn392Ser
ENST00000706636.1:c.*632A>G ENSP00000516476.1:n.*632A>G
XM_005247535.3:c.1004A>G XP_005247592.1:p.Asn335Ser
XM_005247535.4:c.1004A>G XP_005247592.1:p.Asn335Ser
XM_005247536.3:c.1280A>G XP_005247593.1:p.Asn427Ser
XM_017006625.2:c.1004A>G XP_016862114.1:p.Asn335Ser
XM_024453599.1:c.1004A>G XP_024309367.1:p.Asn335Ser
XR_001740176.2:n.1475A>G