Canonical Allele Identifier: CA10615471

Gene: PLOD2

Linked Data

• ClinVar Variation Id: 343634
• ClinVar RCV Id: RCV000359936
• dbSNP Id: rs569145930
• gnomAD v2: 3-145787347-A-G
• gnomAD v3: 3-146069560-A-G
• gnomAD v4: 3-146069560-A-G
• MyVariant Identifiers: chr3:g.145787347A>G (hg19) ; chr3:g.146069560A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.146069560A>G , CM000665.2:g.146069560A>G	GRCh38
NC_000003.11:g.145787347A>G , CM000665.1:g.145787347A>G	GRCh37
NC_000003.10:g.147270037A>G	NCBI36
NG_009251.1:g.96936T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000469350.6:c.*1157T>C	ENSP00000419963.2:n.*1157T>C
ENST00000480704.2:c.*3198T>C	ENSP00000419880.1:n.*3198T>C
ENST00000703517.1:n.579+33195T>C
ENST00000703518.1:c.*1157T>C	ENSP00000515350.1:n.*1157T>C
ENST00000703519.1:n.3451T>C
ENST00000703520.1:c.*1848T>C	ENSP00000515351.1:n.*1848T>C
ENST00000703521.1:c.*2786T>C	ENSP00000515352.1:n.*2786T>C
ENST00000703522.1:c.*1157T>C	ENSP00000515353.1:n.*1157T>C
ENST00000703523.1:c.*1157T>C	ENSP00000515354.1:n.*1157T>C
ENST00000703524.1:n.3284T>C
ENST00000703525.1:n.5786T>C
ENST00000703526.1:n.2802T>C
ENST00000703527.1:c.*1157T>C	ENSP00000515355.1:n.*1157T>C
ENST00000706626.1:c.*1157T>C	ENSP00000516472.1:n.*1157T>C
ENST00000706631.1:n.3879T>C
ENST00000706632.1:n.2298T>C
ENST00000706633.1:n.4406T>C
ENST00000706634.1:n.4595T>C
ENST00000706635.1:c.*1157T>C	ENSP00000516475.1:n.*1157T>C
ENST00000706636.1:c.*2723T>C	ENSP00000516476.1:n.*2723T>C
ENST00000282903.10:c.*1157T>C MANE Select	ENSP00000282903.5:n.*1157T>C
ENST00000282903.9:c.*1157T>C	ENSP00000282903.5:n.*1157T>C
ENST00000360060.7:c.*1157T>C	ENSP00000353170.3:n.*1157T>C
ENST00000461497.5:c.*1157T>C	ENSP00000419354.1:n.*1157T>C
NM_000935.2:c.*1157T>C	NP_000926.2:n.*1157T>C
NM_182943.2:c.*1157T>C	NP_891988.1:n.*1157T>C
XM_005247535.3:c.*1157T>C	XP_005247592.1:n.*1157T>C
XM_005247535.4:c.*1157T>C	XP_005247592.1:n.*1157T>C
XM_017006625.2:c.*1157T>C	XP_016862114.1:n.*1157T>C
XM_024453599.1:c.*1157T>C	XP_024309367.1:n.*1157T>C
XR_001740176.2:n.3702T>C
NM_182943.3:c.*1157T>C MANE Select	NP_891988.1:n.*1157T>C
NM_000935.3:c.*1157T>C	NP_000926.2:n.*1157T>C