Canonical Allele Identifier: CA10613194

Gene: PJVK

Linked Data

• ClinVar Variation Id: 332660
• ClinVar RCV Id: RCV000277479
• dbSNP Id: rs886055212
• MyVariant Identifiers: chr2:g.179325160C>A (hg19) ; chr2:g.178460433C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178460433C>A , CM000664.2:g.178460433C>A	GRCh38
NC_000002.11:g.179325160C>A , CM000664.1:g.179325160C>A	GRCh37
NC_000002.10:g.179033406C>A	NCBI36
NG_012186.1:g.13998C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000642192.1:c.276C>A	ENSP00000494225.1:p.Ile92=
ENST00000642492.1:c.276C>A	ENSP00000496267.1:p.Ile92=
ENST00000642762.1:c.167+13C>A	ENSP00000496028.1:n.167+13C>A
ENST00000644580.2:c.753C>A MANE Select	ENSP00000495855.2:p.Ile251=
ENST00000645572.1:c.668-549C>A	ENSP00000494301.1:n.668-549C>A
ENST00000645817.1:c.276C>A	ENSP00000495731.1:p.Ile92=
ENST00000647226.1:c.276C>A	ENSP00000496024.1:p.Ile92=
ENST00000375129.8:c.753C>A	ENSP00000364271.4:p.Ile251=
ENST00000409117.7:c.753C>A	ENSP00000386647.3:p.Ile251=
ENST00000437056.5:n.1623C>A
ENST00000442710.5:c.477C>A
NM_001042702.3:c.753C>A	NP_001036167.1:p.Ile251=
XM_005246627.1:c.762C>A	XP_005246684.1:p.Ile254=
XM_005246628.2:c.773-549C>A	XP_005246685.1:n.773-549C>A
XM_005246629.2:c.744C>A	XP_005246686.1:p.Ile248=
XM_011511247.1:c.845+13C>A	XP_011509549.1:n.845+13C>A
XM_011511248.1:c.822C>A	XP_011509550.1:p.Ile274=
XM_011511249.1:c.276C>A	XP_011509551.1:p.Ile92=
XM_011511250.1:c.276C>A	XP_011509552.1:p.Ile92=
XM_011511251.1:c.276C>A	XP_011509553.1:p.Ile92=
XR_922929.1:n.1589+13C>A
NM_001042702.4:c.753C>A	NP_001036167.1:p.Ile251=
NM_001353775.1:c.762C>A	NP_001340704.1:p.Ile254=
NM_001353776.1:c.773-549C>A	NP_001340705.1:n.773-549C>A
NM_001353777.1:c.276C>A	NP_001340706.1:p.Ile92=
NM_001353778.1:c.276C>A	NP_001340707.1:p.Ile92=
XM_005246629.4:c.744C>A	XP_005246686.1:p.Ile248=
XM_011511247.3:c.845+13C>A	XP_011509549.1:n.845+13C>A
XM_011511249.3:c.276C>A	XP_011509551.1:p.Ile92=
XM_017004221.2:c.858C>A	XP_016859710.1:p.Ile286=
XM_017004224.2:c.276C>A	XP_016859713.1:p.Ile92=
XM_024452927.1:c.276C>A	XP_024308695.1:p.Ile92=
XM_024452928.1:c.276C>A	XP_024308696.1:p.Ile92=
XR_001738753.2:n.2642C>A
XR_002959300.1:n.2565C>A
XR_922929.3:n.1112+13C>A
NM_001042702.5:c.753C>A MANE Select	NP_001036167.1:p.Ile251=
NM_001369912.1:c.753C>A	NP_001356841.1:p.Ile251=
NM_001353775.2:c.762C>A	NP_001340704.1:p.Ile254=
NM_001353776.2:c.773-549C>A	NP_001340705.1:n.773-549C>A
NM_001353778.2:c.276C>A	NP_001340707.1:p.Ile92=