Canonical Allele Identifier: CA10615473

Gene: PLOD2

Linked Data

• ClinVar Variation Id: 343635
• ClinVar RCV Id: RCV000393117
• dbSNP Id: rs3792347
• gnomAD v2: 3-145787657-G-A
• gnomAD v3: 3-146069870-G-A
• gnomAD v4: 3-146069870-G-A
• MyVariant Identifiers: chr3:g.145787657G>A (hg19) ; chr3:g.146069870G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.146069870G>A , CM000665.2:g.146069870G>A	GRCh38
NC_000003.11:g.145787657G>A , CM000665.1:g.145787657G>A	GRCh37
NC_000003.10:g.147270347G>A	NCBI36
NG_009251.1:g.96626C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000469350.6:c.*847C>T	ENSP00000419963.2:n.*847C>T
ENST00000480704.2:c.*2888C>T	ENSP00000419880.1:n.*2888C>T
ENST00000703517.1:n.579+32885C>T
ENST00000703518.1:c.*847C>T	ENSP00000515350.1:n.*847C>T
ENST00000703519.1:n.3141C>T
ENST00000703520.1:c.*1538C>T	ENSP00000515351.1:n.*1538C>T
ENST00000703521.1:c.*2476C>T	ENSP00000515352.1:n.*2476C>T
ENST00000703522.1:c.*847C>T	ENSP00000515353.1:n.*847C>T
ENST00000703523.1:c.*847C>T	ENSP00000515354.1:n.*847C>T
ENST00000703524.1:n.2974C>T
ENST00000703525.1:n.5476C>T
ENST00000703526.1:n.2492C>T
ENST00000703527.1:c.*847C>T	ENSP00000515355.1:n.*847C>T
ENST00000703528.1:c.*206C>T	ENSP00000515356.1:n.*206C>T
ENST00000706626.1:c.*847C>T	ENSP00000516472.1:n.*847C>T
ENST00000706631.1:n.3569C>T
ENST00000706632.1:n.1988C>T
ENST00000706633.1:n.4096C>T
ENST00000706634.1:n.4285C>T
ENST00000706635.1:c.*847C>T	ENSP00000516475.1:n.*847C>T
ENST00000706636.1:c.*2413C>T	ENSP00000516476.1:n.*2413C>T
ENST00000282903.10:c.*847C>T MANE Select	ENSP00000282903.5:n.*847C>T
ENST00000282903.9:c.*847C>T	ENSP00000282903.5:n.*847C>T
ENST00000360060.7:c.*847C>T	ENSP00000353170.3:n.*847C>T
ENST00000461497.5:c.*847C>T	ENSP00000419354.1:n.*847C>T
NM_000935.2:c.*847C>T	NP_000926.2:n.*847C>T
NM_182943.2:c.*847C>T	NP_891988.1:n.*847C>T
XM_005247535.3:c.*847C>T	XP_005247592.1:n.*847C>T
XM_005247535.4:c.*847C>T	XP_005247592.1:n.*847C>T
XM_017006625.2:c.*847C>T	XP_016862114.1:n.*847C>T
XM_024453599.1:c.*847C>T	XP_024309367.1:n.*847C>T
XR_001740176.2:n.3392C>T
NM_182943.3:c.*847C>T MANE Select	NP_891988.1:n.*847C>T
NM_000935.3:c.*847C>T	NP_000926.2:n.*847C>T