Canonical Allele Identifier: CA349397299

Gene: PJVK

Linked Data

• dbSNP Id: rs778398742
• gnomAD v3: 2-178453505-A-T
• gnomAD v4: 2-178453505-A-T
• MyVariant Identifiers: chr2:g.179318232A>T (hg19) ; chr2:g.178453505A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178453505A>T , CM000664.2:g.178453505A>T	GRCh38
NC_000002.11:g.179318232A>T , CM000664.1:g.179318232A>T	GRCh37
NC_000002.10:g.179026478A>T	NCBI36
NG_009053.1:g.2727T>A
NG_012186.1:g.7070A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642192.1:c.-334-48A>T	ENSP00000494225.1:n.-334-48A>T
ENST00000642492.1:c.-483A>T	ENSP00000496267.1:n.-483A>T
ENST00000643738.1:c.-334-48A>T	ENSP00000493684.1:n.-334-48A>T
ENST00000644554.1:c.-382A>T	ENSP00000495037.1:n.-382A>T
ENST00000644580.2:c.96A>T MANE Select	ENSP00000495855.2:p.Gln32His
ENST00000645572.1:c.96A>T	ENSP00000494301.1:p.Gln32His
ENST00000645762.1:n.210A>T
ENST00000645817.1:c.-334-48A>T	ENSP00000495731.1:n.-334-48A>T
ENST00000647226.1:c.-382A>T	ENSP00000496024.1:n.-382A>T
ENST00000375129.8:c.96A>T	ENSP00000364271.4:p.Gln32His
ENST00000409117.7:c.96A>T	ENSP00000386647.3:p.Gln32His
ENST00000437056.5:n.255A>T
NM_001042702.3:c.96A>T	NP_001036167.1:p.Gln32His
XM_005246627.1:c.105A>T	XP_005246684.1:p.Gln35His
XM_005246628.2:c.201A>T	XP_005246685.1:p.Gln67His
XM_005246629.2:c.87A>T	XP_005246686.1:p.Gln29His
XM_011511247.1:c.201A>T	XP_011509549.1:p.Gln67His
XM_011511248.1:c.165A>T	XP_011509550.1:p.Gln55His
XM_011511249.1:c.-266-827A>T	XP_011509551.1:n.-266-827A>T
XM_011511250.1:c.-334-48A>T	XP_011509552.1:n.-334-48A>T
XM_011511251.1:c.-266-827A>T	XP_011509553.1:n.-266-827A>T
XR_922929.1:n.868A>T
NM_001042702.4:c.96A>T	NP_001036167.1:p.Gln32His
NM_001353775.1:c.105A>T	NP_001340704.1:p.Gln35His
NM_001353776.1:c.201A>T	NP_001340705.1:p.Gln67His
NM_001353777.1:c.-334-48A>T	NP_001340706.1:n.-334-48A>T
NM_001353778.1:c.-382A>T	NP_001340707.1:n.-382A>T
XM_005246629.4:c.87A>T	XP_005246686.1:p.Gln29His
XM_011511247.3:c.201A>T	XP_011509549.1:p.Gln67His
XM_011511249.3:c.-266-827A>T	XP_011509551.1:n.-266-827A>T
XM_017004221.2:c.201A>T	XP_016859710.1:p.Gln67His
XM_017004224.2:c.-1045-48A>T	XP_016859713.1:n.-1045-48A>T
XM_024452927.1:c.-483A>T	XP_024308695.1:n.-483A>T
XM_024452928.1:c.-334-48A>T	XP_024308696.1:n.-334-48A>T
XR_001738753.2:n.1908A>T
XR_002959300.1:n.1908A>T
XR_922929.3:n.391A>T
NM_001042702.5:c.96A>T MANE Select	NP_001036167.1:p.Gln32His
NM_001369912.1:c.96A>T	NP_001356841.1:p.Gln32His
NM_001353775.2:c.105A>T	NP_001340704.1:p.Gln35His
NM_001353776.2:c.201A>T	NP_001340705.1:p.Gln67His
NM_001353778.2:c.-382A>T	NP_001340707.1:n.-382A>T