Canonical Allele Identifier: CA354884140
Community Standard Title: NM_182943.3(PLOD2):c.1848+1G>T
Gene: PLOD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.146072560C>A , CM000665.2:g.146072560C>A GRCh38
NC_000003.11:g.145790347C>A , CM000665.1:g.145790347C>A GRCh37
NC_000003.10:g.147273037C>A NCBI36
NG_009251.1:g.93936G>T

Transcript Alleles

HGVS Amino-acid Change
NM_182943.3:c.1848+1G>T MANE Select NP_891988.1:n.1848+1G>T
ENST00000282903.10:c.1848+1G>T MANE Select ENSP00000282903.5:n.1848+1G>T
NM_000935.2:c.1785+1G>T NP_000926.2:n.1785+1G>T
NM_000935.3:c.1785+1G>T NP_000926.2:n.1785+1G>T
NM_182943.2:c.1848+1G>T NP_891988.1:n.1848+1G>T
ENST00000282903.9:c.1848+1G>T ENSP00000282903.5:n.1848+1G>T
ENST00000360060.7:c.1785+1G>T ENSP00000353170.3:n.1785+1G>T
ENST00000461497.5:c.828+1G>T ENSP00000419354.1:n.828+1G>T
ENST00000469350.6:c.1701+1G>T ENSP00000419963.2:n.1701+1G>T
ENST00000475505.1:n.477G>T
ENST00000480704.2:c.*1612+1G>T ENSP00000419880.1:n.*1612+1G>T
ENST00000494950.5:c.1683+1G>T ENSP00000420094.1:n.1683+1G>T
ENST00000703517.1:n.579+30195G>T
ENST00000703518.1:c.1848+1G>T ENSP00000515350.1:n.1848+1G>T
ENST00000703519.1:n.1865+1G>T
ENST00000703520.1:c.*262+1G>T ENSP00000515351.1:n.*262+1G>T
ENST00000703521.1:c.*1200+1G>T ENSP00000515352.1:n.*1200+1G>T
ENST00000703522.1:c.1848+1G>T ENSP00000515353.1:n.1848+1G>T
ENST00000703523.1:c.1785+1G>T ENSP00000515354.1:n.1785+1G>T
ENST00000703524.1:n.1668+1G>T
ENST00000703525.1:n.4200+1G>T
ENST00000703526.1:n.1216+1G>T
ENST00000703527.1:c.1848+1G>T ENSP00000515355.1:n.1848+1G>T
ENST00000703528.1:c.1440-2466G>T ENSP00000515356.1:n.1440-2466G>T
ENST00000706626.1:c.1671+1G>T ENSP00000516472.1:n.1671+1G>T
ENST00000706631.1:n.2293+1G>T
ENST00000706632.1:n.712+1G>T
ENST00000706633.1:n.1684G>T
ENST00000706634.1:n.3009+1G>T
ENST00000706635.1:c.1680+1G>T ENSP00000516475.1:n.1680+1G>T
ENST00000706636.1:c.*1137+1G>T ENSP00000516476.1:n.*1137+1G>T
XM_005247535.3:c.1572+1G>T XP_005247592.1:n.1572+1G>T
XM_005247535.4:c.1572+1G>T XP_005247592.1:n.1572+1G>T
XM_017006625.2:c.1572+1G>T XP_016862114.1:n.1572+1G>T
XM_024453599.1:c.1509+1G>T XP_024309367.1:n.1509+1G>T
XR_001740176.2:n.2116+1G>T