Canonical Allele Identifier: CA430080378

Gene: PJVK

Linked Data

• ClinVar Variation Id: 894509
• ClinVar RCV Id: RCV001135342
• dbSNP Id: rs1684057503
• gnomAD v4: 2-178456052-C-T
• MyVariant Identifiers: chr2:g.179320779C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178456052C>T , CM000664.2:g.178456052C>T	GRCh38
NC_000002.11:g.179320779C>T , CM000664.1:g.179320779C>T	GRCh37
NC_000002.10:g.179029025C>T	NCBI36
NG_009053.1:g.180G>A
NG_012186.1:g.9617C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000642192.1:c.-28C>T	ENSP00000494225.1:n.-28C>T
ENST00000642492.1:c.-28C>T	ENSP00000496267.1:n.-28C>T
ENST00000643738.1:c.-28C>T	ENSP00000493684.1:n.-28C>T
ENST00000643768.1:n.107C>T
ENST00000644554.1:c.-28C>T	ENSP00000495037.1:n.-28C>T
ENST00000644580.2:c.450C>T MANE Select	ENSP00000495855.2:p.Ser150=
ENST00000645572.1:c.450C>T	ENSP00000494301.1:p.Ser150=
ENST00000645762.1:n.564C>T
ENST00000645817.1:c.-28C>T	ENSP00000495731.1:n.-28C>T
ENST00000647226.1:c.-28C>T	ENSP00000496024.1:n.-28C>T
ENST00000375129.8:c.450C>T	ENSP00000364271.4:p.Ser150=
ENST00000409117.7:c.450C>T	ENSP00000386647.3:p.Ser150=
ENST00000437056.5:n.1320C>T
ENST00000442710.5:c.292C>T
ENST00000444615.1:c.92C>T
NM_001042702.3:c.450C>T	NP_001036167.1:p.Ser150=
XM_005246627.1:c.459C>T	XP_005246684.1:p.Ser153=
XM_005246628.2:c.555C>T	XP_005246685.1:p.Ser185=
XM_005246629.2:c.441C>T	XP_005246686.1:p.Ser147=
XM_011511247.1:c.555C>T	XP_011509549.1:p.Ser185=
XM_011511248.1:c.519C>T	XP_011509550.1:p.Ser173=
XM_011511249.1:c.-28C>T	XP_011509551.1:n.-28C>T
XM_011511250.1:c.-28C>T	XP_011509552.1:n.-28C>T
XM_011511251.1:c.-28C>T	XP_011509553.1:n.-28C>T
XR_922929.1:n.1222C>T
NM_001042702.4:c.450C>T	NP_001036167.1:p.Ser150=
NM_001353775.1:c.459C>T	NP_001340704.1:p.Ser153=
NM_001353776.1:c.555C>T	NP_001340705.1:p.Ser185=
NM_001353777.1:c.-28C>T	NP_001340706.1:n.-28C>T
NM_001353778.1:c.-28C>T	NP_001340707.1:n.-28C>T
XM_005246629.4:c.441C>T	XP_005246686.1:p.Ser147=
XM_011511247.3:c.555C>T	XP_011509549.1:p.Ser185=
XM_011511249.3:c.-28C>T	XP_011509551.1:n.-28C>T
XM_017004221.2:c.555C>T	XP_016859710.1:p.Ser185=
XM_017004224.2:c.-28C>T	XP_016859713.1:n.-28C>T
XM_024452927.1:c.-28C>T	XP_024308695.1:n.-28C>T
XM_024452928.1:c.-28C>T	XP_024308696.1:n.-28C>T
XR_001738753.2:n.2262C>T
XR_002959300.1:n.2262C>T
XR_922929.3:n.745C>T
NM_001042702.5:c.450C>T MANE Select	NP_001036167.1:p.Ser150=
NM_001369912.1:c.450C>T	NP_001356841.1:p.Ser150=
NM_001353775.2:c.459C>T	NP_001340704.1:p.Ser153=
NM_001353776.2:c.555C>T	NP_001340705.1:p.Ser185=
NM_001353778.2:c.-28C>T	NP_001340707.1:n.-28C>T