Canonical Allele Identifier: CA2654686
Community Standard Title: NM_182943.3(PLOD2):c.2103C>T (p.Asn701=)
Gene: PLOD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.146071060G>A , CM000665.2:g.146071060G>A GRCh38
NC_000003.11:g.145788847G>A , CM000665.1:g.145788847G>A GRCh37
NC_000003.10:g.147271537G>A NCBI36
NG_009251.1:g.95436C>T

Transcript Alleles

HGVS Amino-acid Change
NM_182943.3:c.2103C>T MANE Select NP_891988.1:p.Asn701=
ENST00000282903.10:c.2103C>T MANE Select ENSP00000282903.5:p.Asn701=
NM_000935.2:c.2040C>T NP_000926.2:p.Asn680=
NM_000935.3:c.2040C>T NP_000926.2:p.Asn680=
NM_182943.2:c.2103C>T NP_891988.1:p.Asn701=
ENST00000282903.9:c.2103C>T ENSP00000282903.5:p.Asn701=
ENST00000360060.7:c.2040C>T ENSP00000353170.3:p.Asn680=
ENST00000461497.5:c.1083C>T ENSP00000419354.1:p.Asn361=
ENST00000469350.6:c.1956C>T ENSP00000419963.2:p.Asn652=
ENST00000480704.2:c.*1867C>T ENSP00000419880.1:n.*1867C>T
ENST00000494950.5:c.1938C>T ENSP00000420094.1:p.Asn646=
ENST00000495700.1:n.111C>T
ENST00000703517.1:n.579+31695C>T
ENST00000703518.1:c.2103C>T ENSP00000515350.1:p.Asn701=
ENST00000703519.1:n.2120C>T
ENST00000703520.1:c.*517C>T ENSP00000515351.1:n.*517C>T
ENST00000703521.1:c.*1455C>T ENSP00000515352.1:n.*1455C>T
ENST00000703522.1:c.2103C>T ENSP00000515353.1:p.Asn701=
ENST00000703523.1:c.2040C>T ENSP00000515354.1:p.Asn680=
ENST00000703524.1:n.1953C>T
ENST00000703525.1:n.4455C>T
ENST00000703526.1:n.1471C>T
ENST00000703527.1:c.2103C>T ENSP00000515355.1:p.Asn701=
ENST00000703528.1:c.1440-966C>T ENSP00000515356.1:n.1440-966C>T
ENST00000706626.1:c.1926C>T ENSP00000516472.1:p.Asn642=
ENST00000706631.1:n.2548C>T
ENST00000706632.1:n.967C>T
ENST00000706633.1:n.3075C>T
ENST00000706634.1:n.3264C>T
ENST00000706635.1:c.1935C>T ENSP00000516475.1:p.Asn645=
ENST00000706636.1:c.*1392C>T ENSP00000516476.1:n.*1392C>T
XM_005247535.3:c.1827C>T XP_005247592.1:p.Asn609=
XM_005247535.4:c.1827C>T XP_005247592.1:p.Asn609=
XM_017006625.2:c.1827C>T XP_016862114.1:p.Asn609=
XM_024453599.1:c.1764C>T XP_024309367.1:p.Asn588=
XR_001740176.2:n.2371C>T