Canonical Allele Identifier: CA1984200

Gene: PJVK

Linked Data

• ClinVar Variation Id: 3023691
• ClinVar RCV Id: RCV003880786
• dbSNP Id: rs570285692
• ExAC: 2:179320785 A / G
• gnomAD v2: 2-179320785-A-G
• gnomAD v3: 2-178456058-A-G
• gnomAD v4: 2-178456058-A-G
• MyVariant Identifiers: chr2:g.179320785A>G (hg19) ; chr2:g.178456058A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178456058A>G , CM000664.2:g.178456058A>G	GRCh38
NC_000002.11:g.179320785A>G , CM000664.1:g.179320785A>G	GRCh37
NC_000002.10:g.179029031A>G	NCBI36
NG_009053.1:g.174T>C
NG_012186.1:g.9623A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000642192.1:c.-22A>G	ENSP00000494225.1:n.-22A>G
ENST00000642492.1:c.-22A>G	ENSP00000496267.1:n.-22A>G
ENST00000643738.1:c.-22A>G	ENSP00000493684.1:n.-22A>G
ENST00000643768.1:n.113A>G
ENST00000644554.1:c.-22A>G	ENSP00000495037.1:n.-22A>G
ENST00000644580.2:c.456A>G MANE Select	ENSP00000495855.2:p.Arg152=
ENST00000645572.1:c.456A>G	ENSP00000494301.1:p.Arg152=
ENST00000645762.1:n.570A>G
ENST00000645817.1:c.-22A>G	ENSP00000495731.1:n.-22A>G
ENST00000647226.1:c.-22A>G	ENSP00000496024.1:n.-22A>G
ENST00000375129.8:c.456A>G	ENSP00000364271.4:p.Arg152=
ENST00000409117.7:c.456A>G	ENSP00000386647.3:p.Arg152=
ENST00000437056.5:n.1326A>G
ENST00000442710.5:c.298A>G
ENST00000444615.1:c.98A>G
NM_001042702.3:c.456A>G	NP_001036167.1:p.Arg152=
XM_005246627.1:c.465A>G	XP_005246684.1:p.Arg155=
XM_005246628.2:c.561A>G	XP_005246685.1:p.Arg187=
XM_005246629.2:c.447A>G	XP_005246686.1:p.Arg149=
XM_011511247.1:c.561A>G	XP_011509549.1:p.Arg187=
XM_011511248.1:c.525A>G	XP_011509550.1:p.Arg175=
XM_011511249.1:c.-22A>G	XP_011509551.1:n.-22A>G
XM_011511250.1:c.-22A>G	XP_011509552.1:n.-22A>G
XM_011511251.1:c.-22A>G	XP_011509553.1:n.-22A>G
XR_922929.1:n.1228A>G
NM_001042702.4:c.456A>G	NP_001036167.1:p.Arg152=
NM_001353775.1:c.465A>G	NP_001340704.1:p.Arg155=
NM_001353776.1:c.561A>G	NP_001340705.1:p.Arg187=
NM_001353777.1:c.-22A>G	NP_001340706.1:n.-22A>G
NM_001353778.1:c.-22A>G	NP_001340707.1:n.-22A>G
XM_005246629.4:c.447A>G	XP_005246686.1:p.Arg149=
XM_011511247.3:c.561A>G	XP_011509549.1:p.Arg187=
XM_011511249.3:c.-22A>G	XP_011509551.1:n.-22A>G
XM_017004221.2:c.561A>G	XP_016859710.1:p.Arg187=
XM_017004224.2:c.-22A>G	XP_016859713.1:n.-22A>G
XM_024452927.1:c.-22A>G	XP_024308695.1:n.-22A>G
XM_024452928.1:c.-22A>G	XP_024308696.1:n.-22A>G
XR_001738753.2:n.2268A>G
XR_002959300.1:n.2268A>G
XR_922929.3:n.751A>G
NM_001042702.5:c.456A>G MANE Select	NP_001036167.1:p.Arg152=
NM_001369912.1:c.456A>G	NP_001356841.1:p.Arg152=
NM_001353775.2:c.465A>G	NP_001340704.1:p.Arg155=
NM_001353776.2:c.561A>G	NP_001340705.1:p.Arg187=
NM_001353778.2:c.-22A>G	NP_001340707.1:n.-22A>G