Canonical Allele Identifier: CA349399861

Gene: PJVK

Linked Data

• dbSNP Id: rs1489020507
• gnomAD v2: 2-179320852-G-A
• gnomAD v4: 2-178456125-G-A
• MyVariant Identifiers: chr2:g.179320852G>A (hg19) ; chr2:g.178456125G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178456125G>A , CM000664.2:g.178456125G>A	GRCh38
NC_000002.11:g.179320852G>A , CM000664.1:g.179320852G>A	GRCh37
NC_000002.10:g.179029098G>A	NCBI36
NG_009053.1:g.107C>T
NG_012186.1:g.9690G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642192.1:c.46G>A	ENSP00000494225.1:p.Ala16Thr
ENST00000642492.1:c.46G>A	ENSP00000496267.1:p.Ala16Thr
ENST00000643738.1:c.46G>A	ENSP00000493684.1:p.Ala16Thr
ENST00000643768.1:n.180G>A
ENST00000644580.2:c.523G>A MANE Select	ENSP00000495855.2:p.Ala175Thr
ENST00000645572.1:c.523G>A	ENSP00000494301.1:p.Ala175Thr
ENST00000645762.1:n.637G>A
ENST00000645817.1:c.46G>A	ENSP00000495731.1:p.Ala16Thr
ENST00000647226.1:c.46G>A	ENSP00000496024.1:p.Ala16Thr
ENST00000375129.8:c.523G>A	ENSP00000364271.4:p.Ala175Thr
ENST00000409117.7:c.523G>A	ENSP00000386647.3:p.Ala175Thr
ENST00000437056.5:n.1393G>A
ENST00000442710.5:c.365G>A
ENST00000444615.1:c.165G>A
NM_001042702.3:c.523G>A	NP_001036167.1:p.Ala175Thr
XM_005246627.1:c.532G>A	XP_005246684.1:p.Ala178Thr
XM_005246628.2:c.628G>A	XP_005246685.1:p.Ala210Thr
XM_005246629.2:c.514G>A	XP_005246686.1:p.Ala172Thr
XM_011511247.1:c.628G>A	XP_011509549.1:p.Ala210Thr
XM_011511248.1:c.592G>A	XP_011509550.1:p.Ala198Thr
XM_011511249.1:c.46G>A	XP_011509551.1:p.Ala16Thr
XM_011511250.1:c.46G>A	XP_011509552.1:p.Ala16Thr
XM_011511251.1:c.46G>A	XP_011509553.1:p.Ala16Thr
XR_922929.1:n.1295G>A
NM_001042702.4:c.523G>A	NP_001036167.1:p.Ala175Thr
NM_001353775.1:c.532G>A	NP_001340704.1:p.Ala178Thr
NM_001353776.1:c.628G>A	NP_001340705.1:p.Ala210Thr
NM_001353777.1:c.46G>A	NP_001340706.1:p.Ala16Thr
NM_001353778.1:c.46G>A	NP_001340707.1:p.Ala16Thr
XM_005246629.4:c.514G>A	XP_005246686.1:p.Ala172Thr
XM_011511247.3:c.628G>A	XP_011509549.1:p.Ala210Thr
XM_011511249.3:c.46G>A	XP_011509551.1:p.Ala16Thr
XM_017004221.2:c.628G>A	XP_016859710.1:p.Ala210Thr
XM_017004224.2:c.46G>A	XP_016859713.1:p.Ala16Thr
XM_024452927.1:c.46G>A	XP_024308695.1:p.Ala16Thr
XM_024452928.1:c.46G>A	XP_024308696.1:p.Ala16Thr
XR_001738753.2:n.2335G>A
XR_002959300.1:n.2335G>A
XR_922929.3:n.818G>A
NM_001042702.5:c.523G>A MANE Select	NP_001036167.1:p.Ala175Thr
NM_001369912.1:c.523G>A	NP_001356841.1:p.Ala175Thr
NM_001353775.2:c.532G>A	NP_001340704.1:p.Ala178Thr
NM_001353776.2:c.628G>A	NP_001340705.1:p.Ala210Thr
NM_001353778.2:c.46G>A	NP_001340707.1:p.Ala16Thr