Canonical Allele Identifier: CA430080443

Gene: PJVK

Linked Data

• gnomAD v4: 2-178456142-A-G
• MyVariant Identifiers: chr2:g.179320869A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178456142A>G , CM000664.2:g.178456142A>G	GRCh38
NC_000002.11:g.179320869A>G , CM000664.1:g.179320869A>G	GRCh37
NC_000002.10:g.179029115A>G	NCBI36
NG_009053.1:g.90T>C
NG_012186.1:g.9707A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642192.1:c.63A>G	ENSP00000494225.1:p.Glu21=
ENST00000642492.1:c.63A>G	ENSP00000496267.1:p.Glu21=
ENST00000643738.1:c.63A>G	ENSP00000493684.1:p.Glu21=
ENST00000643768.1:n.197A>G
ENST00000644580.2:c.540A>G MANE Select	ENSP00000495855.2:p.Glu180=
ENST00000645572.1:c.540A>G	ENSP00000494301.1:p.Glu180=
ENST00000645762.1:n.654A>G
ENST00000645817.1:c.63A>G	ENSP00000495731.1:p.Glu21=
ENST00000647226.1:c.63A>G	ENSP00000496024.1:p.Glu21=
ENST00000375129.8:c.540A>G	ENSP00000364271.4:p.Glu180=
ENST00000409117.7:c.540A>G	ENSP00000386647.3:p.Glu180=
ENST00000437056.5:n.1410A>G
ENST00000442710.5:c.382A>G
ENST00000444615.1:c.182A>G
NM_001042702.3:c.540A>G	NP_001036167.1:p.Glu180=
XM_005246627.1:c.549A>G	XP_005246684.1:p.Glu183=
XM_005246628.2:c.645A>G	XP_005246685.1:p.Glu215=
XM_005246629.2:c.531A>G	XP_005246686.1:p.Glu177=
XM_011511247.1:c.645A>G	XP_011509549.1:p.Glu215=
XM_011511248.1:c.609A>G	XP_011509550.1:p.Glu203=
XM_011511249.1:c.63A>G	XP_011509551.1:p.Glu21=
XM_011511250.1:c.63A>G	XP_011509552.1:p.Glu21=
XM_011511251.1:c.63A>G	XP_011509553.1:p.Glu21=
XR_922929.1:n.1312A>G
NM_001042702.4:c.540A>G	NP_001036167.1:p.Glu180=
NM_001353775.1:c.549A>G	NP_001340704.1:p.Glu183=
NM_001353776.1:c.645A>G	NP_001340705.1:p.Glu215=
NM_001353777.1:c.63A>G	NP_001340706.1:p.Glu21=
NM_001353778.1:c.63A>G	NP_001340707.1:p.Glu21=
XM_005246629.4:c.531A>G	XP_005246686.1:p.Glu177=
XM_011511247.3:c.645A>G	XP_011509549.1:p.Glu215=
XM_011511249.3:c.63A>G	XP_011509551.1:p.Glu21=
XM_017004221.2:c.645A>G	XP_016859710.1:p.Glu215=
XM_017004224.2:c.63A>G	XP_016859713.1:p.Glu21=
XM_024452927.1:c.63A>G	XP_024308695.1:p.Glu21=
XM_024452928.1:c.63A>G	XP_024308696.1:p.Glu21=
XR_001738753.2:n.2352A>G
XR_002959300.1:n.2352A>G
XR_922929.3:n.835A>G
NM_001042702.5:c.540A>G MANE Select	NP_001036167.1:p.Glu180=
NM_001369912.1:c.540A>G	NP_001356841.1:p.Glu180=
NM_001353775.2:c.549A>G	NP_001340704.1:p.Glu183=
NM_001353776.2:c.645A>G	NP_001340705.1:p.Glu215=
NM_001353778.2:c.63A>G	NP_001340707.1:p.Glu21=