Canonical Allele Identifier: CA2655239
Community Standard Title: NM_182943.3(PLOD2):c.484C>T (p.Arg162Cys)
Gene: PLOD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.146110303G>A , CM000665.2:g.146110303G>A GRCh38
NC_000003.11:g.145828090G>A , CM000665.1:g.145828090G>A GRCh37
NC_000003.10:g.147310780G>A NCBI36
NG_009251.1:g.56193C>T

Transcript Alleles

HGVS Amino-acid Change
NM_182943.3:c.484C>T MANE Select NP_891988.1:p.Arg162Cys
ENST00000282903.10:c.484C>T MANE Select ENSP00000282903.5:p.Arg162Cys
NM_000935.2:c.484C>T NP_000926.2:p.Arg162Cys
NM_000935.3:c.484C>T NP_000926.2:p.Arg162Cys
NM_182943.2:c.484C>T NP_891988.1:p.Arg162Cys
ENST00000282903.9:c.484C>T ENSP00000282903.5:p.Arg162Cys
ENST00000360060.7:c.484C>T ENSP00000353170.3:p.Arg162Cys
ENST00000469350.5:c.400C>T ENSP00000419963.1:p.Arg134Cys
ENST00000469350.6:c.400C>T ENSP00000419963.2:p.Arg134Cys
ENST00000480704.1:c.*248C>T ENSP00000419880.1:n.*248C>T
ENST00000480704.2:c.*248C>T ENSP00000419880.1:n.*248C>T
ENST00000494950.5:c.319C>T ENSP00000420094.1:p.Arg107Cys
ENST00000703517.1:n.286C>T
ENST00000703518.1:c.484C>T ENSP00000515350.1:p.Arg162Cys
ENST00000703519.1:n.501C>T
ENST00000703520.1:c.484C>T ENSP00000515351.1:p.Arg162Cys
ENST00000703521.1:c.484C>T ENSP00000515352.1:p.Arg162Cys
ENST00000703522.1:c.484C>T ENSP00000515353.1:p.Arg162Cys
ENST00000703523.1:c.484C>T ENSP00000515354.1:p.Arg162Cys
ENST00000703525.1:n.679C>T
ENST00000703527.1:c.484C>T ENSP00000515355.1:p.Arg162Cys
ENST00000703528.1:c.319C>T ENSP00000515356.1:p.Arg107Cys
ENST00000703529.1:n.679C>T
ENST00000706626.1:c.484C>T ENSP00000516472.1:p.Arg162Cys
ENST00000706627.1:n.679C>T
ENST00000706634.1:n.679C>T
ENST00000706635.1:c.484C>T ENSP00000516475.1:p.Arg162Cys
ENST00000706636.1:c.484C>T ENSP00000516476.1:p.Arg162Cys
XM_005247535.3:c.208C>T XP_005247592.1:p.Arg70Cys
XM_005247535.4:c.208C>T XP_005247592.1:p.Arg70Cys
XM_005247536.3:c.484C>T XP_005247593.1:p.Arg162Cys
XM_017006625.2:c.208C>T XP_016862114.1:p.Arg70Cys
XM_024453599.1:c.208C>T XP_024309367.1:p.Arg70Cys
XR_001740176.2:n.679C>T