Canonical Allele Identifier: CA1984217

Gene: PJVK

Linked Data

• ClinVar Variation Id: 2973410
• ClinVar RCV Id: RCV003830504
• dbSNP Id: rs775452146
• ExAC: 2:179320889 C / T
• gnomAD v2: 2-179320889-C-T
• MyVariant Identifiers: chr2:g.179320889C>T (hg19) ; chr2:g.178456162C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178456162C>T , CM000664.2:g.178456162C>T	GRCh38
NC_000002.11:g.179320889C>T , CM000664.1:g.179320889C>T	GRCh37
NC_000002.10:g.179029135C>T	NCBI36
NG_009053.1:g.70G>A
NG_012186.1:g.9727C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000642192.1:c.72+11C>T	ENSP00000494225.1:n.72+11C>T
ENST00000642492.1:c.72+11C>T	ENSP00000496267.1:n.72+11C>T
ENST00000643738.1:c.72+11C>T	ENSP00000493684.1:n.72+11C>T
ENST00000643768.1:n.206+11C>T
ENST00000644580.2:c.549+11C>T MANE Select	ENSP00000495855.2:n.549+11C>T
ENST00000645572.1:c.549+11C>T	ENSP00000494301.1:n.549+11C>T
ENST00000645762.1:n.674C>T
ENST00000645817.1:c.72+11C>T	ENSP00000495731.1:n.72+11C>T
ENST00000647226.1:c.72+11C>T	ENSP00000496024.1:n.72+11C>T
ENST00000375129.8:c.549+11C>T	ENSP00000364271.4:n.549+11C>T
ENST00000409117.7:c.549+11C>T	ENSP00000386647.3:n.549+11C>T
ENST00000437056.5:n.1419+11C>T
ENST00000442710.5:c.391+11C>T
ENST00000444615.1:c.191+11C>T
NM_001042702.3:c.549+11C>T	NP_001036167.1:n.549+11C>T
XM_005246627.1:c.558+11C>T	XP_005246684.1:n.558+11C>T
XM_005246628.2:c.654+11C>T	XP_005246685.1:n.654+11C>T
XM_005246629.2:c.540+11C>T	XP_005246686.1:n.540+11C>T
XM_011511247.1:c.654+11C>T	XP_011509549.1:n.654+11C>T
XM_011511248.1:c.618+11C>T	XP_011509550.1:n.618+11C>T
XM_011511249.1:c.72+11C>T	XP_011509551.1:n.72+11C>T
XM_011511250.1:c.72+11C>T	XP_011509552.1:n.72+11C>T
XM_011511251.1:c.72+11C>T	XP_011509553.1:n.72+11C>T
XR_922929.1:n.1321+11C>T
NM_001042702.4:c.549+11C>T	NP_001036167.1:n.549+11C>T
NM_001353775.1:c.558+11C>T	NP_001340704.1:n.558+11C>T
NM_001353776.1:c.654+11C>T	NP_001340705.1:n.654+11C>T
NM_001353777.1:c.72+11C>T	NP_001340706.1:n.72+11C>T
NM_001353778.1:c.72+11C>T	NP_001340707.1:n.72+11C>T
XM_005246629.4:c.540+11C>T	XP_005246686.1:n.540+11C>T
XM_011511247.3:c.654+11C>T	XP_011509549.1:n.654+11C>T
XM_011511249.3:c.72+11C>T	XP_011509551.1:n.72+11C>T
XM_017004221.2:c.654+11C>T	XP_016859710.1:n.654+11C>T
XM_017004224.2:c.72+11C>T	XP_016859713.1:n.72+11C>T
XM_024452927.1:c.72+11C>T	XP_024308695.1:n.72+11C>T
XM_024452928.1:c.72+11C>T	XP_024308696.1:n.72+11C>T
XR_001738753.2:n.2361+11C>T
XR_002959300.1:n.2361+11C>T
XR_922929.3:n.844+11C>T
NM_001042702.5:c.549+11C>T MANE Select	NP_001036167.1:n.549+11C>T
NM_001369912.1:c.549+11C>T	NP_001356841.1:n.549+11C>T
NM_001353775.2:c.558+11C>T	NP_001340704.1:n.558+11C>T
NM_001353776.2:c.654+11C>T	NP_001340705.1:n.654+11C>T
NM_001353778.2:c.72+11C>T	NP_001340707.1:n.72+11C>T