Canonical Allele Identifier: CA1984137

Gene: PJVK

Linked Data

• dbSNP Id: rs766097865
• ExAC: 2:179318374 A / G
• gnomAD v2: 2-179318374-A-G
• gnomAD v4: 2-178453647-A-G
• MyVariant Identifiers: chr2:g.179318374A>G (hg19) ; chr2:g.178453647A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178453647A>G , CM000664.2:g.178453647A>G	GRCh38
NC_000002.11:g.179318374A>G , CM000664.1:g.179318374A>G	GRCh37
NC_000002.10:g.179026620A>G	NCBI36
NG_009053.1:g.2585T>C
NG_012186.1:g.7212A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642192.1:c.-267+27A>G	ENSP00000494225.1:n.-267+27A>G
ENST00000642492.1:c.-368+27A>G	ENSP00000496267.1:n.-368+27A>G
ENST00000643738.1:c.-267+27A>G	ENSP00000493684.1:n.-267+27A>G
ENST00000644554.1:c.-267+27A>G	ENSP00000495037.1:n.-267+27A>G
ENST00000644580.2:c.211+27A>G MANE Select	ENSP00000495855.2:n.211+27A>G
ENST00000645572.1:c.211+27A>G	ENSP00000494301.1:n.211+27A>G
ENST00000645762.1:n.325+27A>G
ENST00000645817.1:c.-267+27A>G	ENSP00000495731.1:n.-267+27A>G
ENST00000647226.1:c.-267+27A>G	ENSP00000496024.1:n.-267+27A>G
ENST00000375129.8:c.211+27A>G	ENSP00000364271.4:n.211+27A>G
ENST00000409117.7:c.211+27A>G	ENSP00000386647.3:n.211+27A>G
ENST00000437056.5:n.397A>G
ENST00000442710.5:c.53+27A>G
NM_001042702.3:c.211+27A>G	NP_001036167.1:n.211+27A>G
XM_005246627.1:c.220+27A>G	XP_005246684.1:n.220+27A>G
XM_005246628.2:c.316+27A>G	XP_005246685.1:n.316+27A>G
XM_005246629.2:c.202+27A>G	XP_005246686.1:n.202+27A>G
XM_011511247.1:c.316+27A>G	XP_011509549.1:n.316+27A>G
XM_011511248.1:c.280+27A>G	XP_011509550.1:n.280+27A>G
XM_011511249.1:c.-266-685A>G	XP_011509551.1:n.-266-685A>G
XM_011511250.1:c.-267+27A>G	XP_011509552.1:n.-267+27A>G
XM_011511251.1:c.-266-685A>G	XP_011509553.1:n.-266-685A>G
XR_922929.1:n.983+27A>G
NM_001042702.4:c.211+27A>G	NP_001036167.1:n.211+27A>G
NM_001353775.1:c.220+27A>G	NP_001340704.1:n.220+27A>G
NM_001353776.1:c.316+27A>G	NP_001340705.1:n.316+27A>G
NM_001353777.1:c.-267+27A>G	NP_001340706.1:n.-267+27A>G
NM_001353778.1:c.-267+27A>G	NP_001340707.1:n.-267+27A>G
XM_005246629.4:c.202+27A>G	XP_005246686.1:n.202+27A>G
XM_011511247.3:c.316+27A>G	XP_011509549.1:n.316+27A>G
XM_011511249.3:c.-266-685A>G	XP_011509551.1:n.-266-685A>G
XM_017004221.2:c.316+27A>G	XP_016859710.1:n.316+27A>G
XM_017004224.2:c.-951A>G	XP_016859713.1:n.-951A>G
XM_024452927.1:c.-368+27A>G	XP_024308695.1:n.-368+27A>G
XM_024452928.1:c.-267+27A>G	XP_024308696.1:n.-267+27A>G
XR_001738753.2:n.2023+27A>G
XR_002959300.1:n.2023+27A>G
XR_922929.3:n.506+27A>G
NM_001042702.5:c.211+27A>G MANE Select	NP_001036167.1:n.211+27A>G
NM_001369912.1:c.211+27A>G	NP_001356841.1:n.211+27A>G
NM_001353775.2:c.220+27A>G	NP_001340704.1:n.220+27A>G
NM_001353776.2:c.316+27A>G	NP_001340705.1:n.316+27A>G
NM_001353778.2:c.-267+27A>G	NP_001340707.1:n.-267+27A>G