Canonical Allele Identifier: CA349397455

Gene: PJVK

Linked Data

• MyVariant Identifiers: chr2:g.179318305A>T (hg19) ; chr2:g.178453578A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178453578A>T , CM000664.2:g.178453578A>T	GRCh38
NC_000002.11:g.179318305A>T , CM000664.1:g.179318305A>T	GRCh37
NC_000002.10:g.179026551A>T	NCBI36
NG_009053.1:g.2654T>A
NG_012186.1:g.7143A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642192.1:c.-309A>T	ENSP00000494225.1:n.-309A>T
ENST00000642492.1:c.-410A>T	ENSP00000496267.1:n.-410A>T
ENST00000643738.1:c.-309A>T	ENSP00000493684.1:n.-309A>T
ENST00000644554.1:c.-309A>T	ENSP00000495037.1:n.-309A>T
ENST00000644580.2:c.169A>T MANE Select	ENSP00000495855.2:p.Thr57Ser
ENST00000645572.1:c.169A>T	ENSP00000494301.1:p.Thr57Ser
ENST00000645762.1:n.283A>T
ENST00000645817.1:c.-309A>T	ENSP00000495731.1:n.-309A>T
ENST00000647226.1:c.-309A>T	ENSP00000496024.1:n.-309A>T
ENST00000375129.8:c.169A>T	ENSP00000364271.4:p.Thr57Ser
ENST00000409117.7:c.169A>T	ENSP00000386647.3:p.Thr57Ser
ENST00000437056.5:n.328A>T
ENST00000442710.5:c.11A>T
NM_001042702.3:c.169A>T	NP_001036167.1:p.Thr57Ser
XM_005246627.1:c.178A>T	XP_005246684.1:p.Thr60Ser
XM_005246628.2:c.274A>T	XP_005246685.1:p.Thr92Ser
XM_005246629.2:c.160A>T	XP_005246686.1:p.Thr54Ser
XM_011511247.1:c.274A>T	XP_011509549.1:p.Thr92Ser
XM_011511248.1:c.238A>T	XP_011509550.1:p.Thr80Ser
XM_011511249.1:c.-266-754A>T	XP_011509551.1:n.-266-754A>T
XM_011511250.1:c.-309A>T	XP_011509552.1:n.-309A>T
XM_011511251.1:c.-266-754A>T	XP_011509553.1:n.-266-754A>T
XR_922929.1:n.941A>T
NM_001042702.4:c.169A>T	NP_001036167.1:p.Thr57Ser
NM_001353775.1:c.178A>T	NP_001340704.1:p.Thr60Ser
NM_001353776.1:c.274A>T	NP_001340705.1:p.Thr92Ser
NM_001353777.1:c.-309A>T	NP_001340706.1:n.-309A>T
NM_001353778.1:c.-309A>T	NP_001340707.1:n.-309A>T
XM_005246629.4:c.160A>T	XP_005246686.1:p.Thr54Ser
XM_011511247.3:c.274A>T	XP_011509549.1:p.Thr92Ser
XM_011511249.3:c.-266-754A>T	XP_011509551.1:n.-266-754A>T
XM_017004221.2:c.274A>T	XP_016859710.1:p.Thr92Ser
XM_017004224.2:c.-1020A>T	XP_016859713.1:n.-1020A>T
XM_024452927.1:c.-410A>T	XP_024308695.1:n.-410A>T
XM_024452928.1:c.-309A>T	XP_024308696.1:n.-309A>T
XR_001738753.2:n.1981A>T
XR_002959300.1:n.1981A>T
XR_922929.3:n.464A>T
NM_001042702.5:c.169A>T MANE Select	NP_001036167.1:p.Thr57Ser
NM_001369912.1:c.169A>T	NP_001356841.1:p.Thr57Ser
NM_001353775.2:c.178A>T	NP_001340704.1:p.Thr60Ser
NM_001353776.2:c.274A>T	NP_001340705.1:p.Thr92Ser
NM_001353778.2:c.-309A>T	NP_001340707.1:n.-309A>T