Canonical Allele Identifier: CA349399565

Gene: PJVK

Linked Data

• gnomAD v4: 2-178456063-C-T
• MyVariant Identifiers: chr2:g.179320790C>T (hg19) ; chr2:g.178456063C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178456063C>T , CM000664.2:g.178456063C>T	GRCh38
NC_000002.11:g.179320790C>T , CM000664.1:g.179320790C>T	GRCh37
NC_000002.10:g.179029036C>T	NCBI36
NG_009053.1:g.169G>A
NG_012186.1:g.9628C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642192.1:c.-17C>T	ENSP00000494225.1:n.-17C>T
ENST00000642492.1:c.-17C>T	ENSP00000496267.1:n.-17C>T
ENST00000643738.1:c.-17C>T	ENSP00000493684.1:n.-17C>T
ENST00000643768.1:n.118C>T
ENST00000644554.1:c.-17C>T	ENSP00000495037.1:n.-17C>T
ENST00000644580.2:c.461C>T MANE Select	ENSP00000495855.2:p.Ala154Val
ENST00000645572.1:c.461C>T	ENSP00000494301.1:p.Ala154Val
ENST00000645762.1:n.575C>T
ENST00000645817.1:c.-17C>T	ENSP00000495731.1:n.-17C>T
ENST00000647226.1:c.-17C>T	ENSP00000496024.1:n.-17C>T
ENST00000375129.8:c.461C>T	ENSP00000364271.4:p.Ala154Val
ENST00000409117.7:c.461C>T	ENSP00000386647.3:p.Ala154Val
ENST00000437056.5:n.1331C>T
ENST00000442710.5:c.303C>T
ENST00000444615.1:c.103C>T
NM_001042702.3:c.461C>T	NP_001036167.1:p.Ala154Val
XM_005246627.1:c.470C>T	XP_005246684.1:p.Ala157Val
XM_005246628.2:c.566C>T	XP_005246685.1:p.Ala189Val
XM_005246629.2:c.452C>T	XP_005246686.1:p.Ala151Val
XM_011511247.1:c.566C>T	XP_011509549.1:p.Ala189Val
XM_011511248.1:c.530C>T	XP_011509550.1:p.Ala177Val
XM_011511249.1:c.-17C>T	XP_011509551.1:n.-17C>T
XM_011511250.1:c.-17C>T	XP_011509552.1:n.-17C>T
XM_011511251.1:c.-17C>T	XP_011509553.1:n.-17C>T
XR_922929.1:n.1233C>T
NM_001042702.4:c.461C>T	NP_001036167.1:p.Ala154Val
NM_001353775.1:c.470C>T	NP_001340704.1:p.Ala157Val
NM_001353776.1:c.566C>T	NP_001340705.1:p.Ala189Val
NM_001353777.1:c.-17C>T	NP_001340706.1:n.-17C>T
NM_001353778.1:c.-17C>T	NP_001340707.1:n.-17C>T
XM_005246629.4:c.452C>T	XP_005246686.1:p.Ala151Val
XM_011511247.3:c.566C>T	XP_011509549.1:p.Ala189Val
XM_011511249.3:c.-17C>T	XP_011509551.1:n.-17C>T
XM_017004221.2:c.566C>T	XP_016859710.1:p.Ala189Val
XM_017004224.2:c.-17C>T	XP_016859713.1:n.-17C>T
XM_024452927.1:c.-17C>T	XP_024308695.1:n.-17C>T
XM_024452928.1:c.-17C>T	XP_024308696.1:n.-17C>T
XR_001738753.2:n.2273C>T
XR_002959300.1:n.2273C>T
XR_922929.3:n.756C>T
NM_001042702.5:c.461C>T MANE Select	NP_001036167.1:p.Ala154Val
NM_001369912.1:c.461C>T	NP_001356841.1:p.Ala154Val
NM_001353775.2:c.470C>T	NP_001340704.1:p.Ala157Val
NM_001353776.2:c.566C>T	NP_001340705.1:p.Ala189Val
NM_001353778.2:c.-17C>T	NP_001340707.1:n.-17C>T