Canonical Allele Identifier: CA349397491

Gene: PJVK

Linked Data

• gnomAD v4: 2-178453596-C-G
• MyVariant Identifiers: chr2:g.179318323C>G (hg19) ; chr2:g.178453596C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178453596C>G , CM000664.2:g.178453596C>G	GRCh38
NC_000002.11:g.179318323C>G , CM000664.1:g.179318323C>G	GRCh37
NC_000002.10:g.179026569C>G	NCBI36
NG_009053.1:g.2636G>C
NG_012186.1:g.7161C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642192.1:c.-291C>G	ENSP00000494225.1:n.-291C>G
ENST00000642492.1:c.-392C>G	ENSP00000496267.1:n.-392C>G
ENST00000643738.1:c.-291C>G	ENSP00000493684.1:n.-291C>G
ENST00000644554.1:c.-291C>G	ENSP00000495037.1:n.-291C>G
ENST00000644580.2:c.187C>G MANE Select	ENSP00000495855.2:p.Leu63Val
ENST00000645572.1:c.187C>G	ENSP00000494301.1:p.Leu63Val
ENST00000645762.1:n.301C>G
ENST00000645817.1:c.-291C>G	ENSP00000495731.1:n.-291C>G
ENST00000647226.1:c.-291C>G	ENSP00000496024.1:n.-291C>G
ENST00000375129.8:c.187C>G	ENSP00000364271.4:p.Leu63Val
ENST00000409117.7:c.187C>G	ENSP00000386647.3:p.Leu63Val
ENST00000437056.5:n.346C>G
ENST00000442710.5:c.29C>G
NM_001042702.3:c.187C>G	NP_001036167.1:p.Leu63Val
XM_005246627.1:c.196C>G	XP_005246684.1:p.Leu66Val
XM_005246628.2:c.292C>G	XP_005246685.1:p.Leu98Val
XM_005246629.2:c.178C>G	XP_005246686.1:p.Leu60Val
XM_011511247.1:c.292C>G	XP_011509549.1:p.Leu98Val
XM_011511248.1:c.256C>G	XP_011509550.1:p.Leu86Val
XM_011511249.1:c.-266-736C>G	XP_011509551.1:n.-266-736C>G
XM_011511250.1:c.-291C>G	XP_011509552.1:n.-291C>G
XM_011511251.1:c.-266-736C>G	XP_011509553.1:n.-266-736C>G
XR_922929.1:n.959C>G
NM_001042702.4:c.187C>G	NP_001036167.1:p.Leu63Val
NM_001353775.1:c.196C>G	NP_001340704.1:p.Leu66Val
NM_001353776.1:c.292C>G	NP_001340705.1:p.Leu98Val
NM_001353777.1:c.-291C>G	NP_001340706.1:n.-291C>G
NM_001353778.1:c.-291C>G	NP_001340707.1:n.-291C>G
XM_005246629.4:c.178C>G	XP_005246686.1:p.Leu60Val
XM_011511247.3:c.292C>G	XP_011509549.1:p.Leu98Val
XM_011511249.3:c.-266-736C>G	XP_011509551.1:n.-266-736C>G
XM_017004221.2:c.292C>G	XP_016859710.1:p.Leu98Val
XM_017004224.2:c.-1002C>G	XP_016859713.1:n.-1002C>G
XM_024452927.1:c.-392C>G	XP_024308695.1:n.-392C>G
XM_024452928.1:c.-291C>G	XP_024308696.1:n.-291C>G
XR_001738753.2:n.1999C>G
XR_002959300.1:n.1999C>G
XR_922929.3:n.482C>G
NM_001042702.5:c.187C>G MANE Select	NP_001036167.1:p.Leu63Val
NM_001369912.1:c.187C>G	NP_001356841.1:p.Leu63Val
NM_001353775.2:c.196C>G	NP_001340704.1:p.Leu66Val
NM_001353776.2:c.292C>G	NP_001340705.1:p.Leu98Val
NM_001353778.2:c.-291C>G	NP_001340707.1:n.-291C>G