Canonical Allele Identifier: CA349397469

Gene: PJVK

Linked Data

• gnomAD v4: 2-178453586-A-C
• MyVariant Identifiers: chr2:g.179318313A>C (hg19) ; chr2:g.178453586A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178453586A>C , CM000664.2:g.178453586A>C	GRCh38
NC_000002.11:g.179318313A>C , CM000664.1:g.179318313A>C	GRCh37
NC_000002.10:g.179026559A>C	NCBI36
NG_009053.1:g.2646T>G
NG_012186.1:g.7151A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642192.1:c.-301A>C	ENSP00000494225.1:n.-301A>C
ENST00000642492.1:c.-402A>C	ENSP00000496267.1:n.-402A>C
ENST00000643738.1:c.-301A>C	ENSP00000493684.1:n.-301A>C
ENST00000644554.1:c.-301A>C	ENSP00000495037.1:n.-301A>C
ENST00000644580.2:c.177A>C MANE Select	ENSP00000495855.2:p.Lys59Asn
ENST00000645572.1:c.177A>C	ENSP00000494301.1:p.Lys59Asn
ENST00000645762.1:n.291A>C
ENST00000645817.1:c.-301A>C	ENSP00000495731.1:n.-301A>C
ENST00000647226.1:c.-301A>C	ENSP00000496024.1:n.-301A>C
ENST00000375129.8:c.177A>C	ENSP00000364271.4:p.Lys59Asn
ENST00000409117.7:c.177A>C	ENSP00000386647.3:p.Lys59Asn
ENST00000437056.5:n.336A>C
ENST00000442710.5:c.19A>C
NM_001042702.3:c.177A>C	NP_001036167.1:p.Lys59Asn
XM_005246627.1:c.186A>C	XP_005246684.1:p.Lys62Asn
XM_005246628.2:c.282A>C	XP_005246685.1:p.Lys94Asn
XM_005246629.2:c.168A>C	XP_005246686.1:p.Lys56Asn
XM_011511247.1:c.282A>C	XP_011509549.1:p.Lys94Asn
XM_011511248.1:c.246A>C	XP_011509550.1:p.Lys82Asn
XM_011511249.1:c.-266-746A>C	XP_011509551.1:n.-266-746A>C
XM_011511250.1:c.-301A>C	XP_011509552.1:n.-301A>C
XM_011511251.1:c.-266-746A>C	XP_011509553.1:n.-266-746A>C
XR_922929.1:n.949A>C
NM_001042702.4:c.177A>C	NP_001036167.1:p.Lys59Asn
NM_001353775.1:c.186A>C	NP_001340704.1:p.Lys62Asn
NM_001353776.1:c.282A>C	NP_001340705.1:p.Lys94Asn
NM_001353777.1:c.-301A>C	NP_001340706.1:n.-301A>C
NM_001353778.1:c.-301A>C	NP_001340707.1:n.-301A>C
XM_005246629.4:c.168A>C	XP_005246686.1:p.Lys56Asn
XM_011511247.3:c.282A>C	XP_011509549.1:p.Lys94Asn
XM_011511249.3:c.-266-746A>C	XP_011509551.1:n.-266-746A>C
XM_017004221.2:c.282A>C	XP_016859710.1:p.Lys94Asn
XM_017004224.2:c.-1012A>C	XP_016859713.1:n.-1012A>C
XM_024452927.1:c.-402A>C	XP_024308695.1:n.-402A>C
XM_024452928.1:c.-301A>C	XP_024308696.1:n.-301A>C
XR_001738753.2:n.1989A>C
XR_002959300.1:n.1989A>C
XR_922929.3:n.472A>C
NM_001042702.5:c.177A>C MANE Select	NP_001036167.1:p.Lys59Asn
NM_001369912.1:c.177A>C	NP_001356841.1:p.Lys59Asn
NM_001353775.2:c.186A>C	NP_001340704.1:p.Lys62Asn
NM_001353776.2:c.282A>C	NP_001340705.1:p.Lys94Asn
NM_001353778.2:c.-301A>C	NP_001340707.1:n.-301A>C