Canonical Allele Identifier: CA2655122
Community Standard Title: NM_182943.3(PLOD2):c.801C>G (p.Asn267Lys)
Gene: PLOD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.146091878G>C , CM000665.2:g.146091878G>C GRCh38
NC_000003.11:g.145809665G>C , CM000665.1:g.145809665G>C GRCh37
NC_000003.10:g.147292355G>C NCBI36
NG_009251.1:g.74618C>G

Transcript Alleles

HGVS Amino-acid Change
NM_182943.3:c.801C>G MANE Select NP_891988.1:p.Asn267Lys
ENST00000282903.10:c.801C>G MANE Select ENSP00000282903.5:p.Asn267Lys
NM_000935.2:c.801C>G NP_000926.2:p.Asn267Lys
NM_000935.3:c.801C>G NP_000926.2:p.Asn267Lys
NM_182943.2:c.801C>G NP_891988.1:p.Asn267Lys
ENST00000282903.9:c.801C>G ENSP00000282903.5:p.Asn267Lys
ENST00000360060.7:c.801C>G ENSP00000353170.3:p.Asn267Lys
ENST00000469350.6:c.717C>G ENSP00000419963.2:p.Asn239Lys
ENST00000480704.2:c.*565C>G ENSP00000419880.1:n.*565C>G
ENST00000494950.5:c.636C>G ENSP00000420094.1:p.Asn212Lys
ENST00000703517.1:n.579+10877C>G
ENST00000703518.1:c.801C>G ENSP00000515350.1:p.Asn267Lys
ENST00000703519.1:n.818C>G
ENST00000703520.1:c.801C>G ENSP00000515351.1:p.Asn267Lys
ENST00000703521.1:c.*153C>G ENSP00000515352.1:n.*153C>G
ENST00000703522.1:c.801C>G ENSP00000515353.1:p.Asn267Lys
ENST00000703523.1:c.801C>G ENSP00000515354.1:p.Asn267Lys
ENST00000703524.1:n.324C>G
ENST00000703525.1:n.996C>G
ENST00000703526.1:n.169C>G
ENST00000703527.1:c.801C>G ENSP00000515355.1:p.Asn267Lys
ENST00000703528.1:c.636C>G ENSP00000515356.1:p.Asn212Lys
ENST00000703529.1:n.996C>G
ENST00000706626.1:c.801C>G ENSP00000516472.1:p.Asn267Lys
ENST00000706627.1:n.996C>G
ENST00000706634.1:n.996C>G
ENST00000706635.1:c.801C>G ENSP00000516475.1:p.Asn267Lys
ENST00000706636.1:c.*153C>G ENSP00000516476.1:n.*153C>G
XM_005247535.3:c.525C>G XP_005247592.1:p.Asn175Lys
XM_005247535.4:c.525C>G XP_005247592.1:p.Asn175Lys
XM_005247536.3:c.801C>G XP_005247593.1:p.Asn267Lys
XM_017006625.2:c.525C>G XP_016862114.1:p.Asn175Lys
XM_024453599.1:c.525C>G XP_024309367.1:p.Asn175Lys
XR_001740176.2:n.996C>G