Canonical Allele Identifier: CA349397522

Gene: PJVK

Linked Data

• MyVariant Identifiers: chr2:g.179318338A>C (hg19) ; chr2:g.178453611A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178453611A>C , CM000664.2:g.178453611A>C	GRCh38
NC_000002.11:g.179318338A>C , CM000664.1:g.179318338A>C	GRCh37
NC_000002.10:g.179026584A>C	NCBI36
NG_009053.1:g.2621T>G
NG_012186.1:g.7176A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642192.1:c.-276A>C	ENSP00000494225.1:n.-276A>C
ENST00000642492.1:c.-377A>C	ENSP00000496267.1:n.-377A>C
ENST00000643738.1:c.-276A>C	ENSP00000493684.1:n.-276A>C
ENST00000644554.1:c.-276A>C	ENSP00000495037.1:n.-276A>C
ENST00000644580.2:c.202A>C MANE Select	ENSP00000495855.2:p.Ile68Leu
ENST00000645572.1:c.202A>C	ENSP00000494301.1:p.Ile68Leu
ENST00000645762.1:n.316A>C
ENST00000645817.1:c.-276A>C	ENSP00000495731.1:n.-276A>C
ENST00000647226.1:c.-276A>C	ENSP00000496024.1:n.-276A>C
ENST00000375129.8:c.202A>C	ENSP00000364271.4:p.Ile68Leu
ENST00000409117.7:c.202A>C	ENSP00000386647.3:p.Ile68Leu
ENST00000437056.5:n.361A>C
ENST00000442710.5:c.44A>C
NM_001042702.3:c.202A>C	NP_001036167.1:p.Ile68Leu
XM_005246627.1:c.211A>C	XP_005246684.1:p.Ile71Leu
XM_005246628.2:c.307A>C	XP_005246685.1:p.Ile103Leu
XM_005246629.2:c.193A>C	XP_005246686.1:p.Ile65Leu
XM_011511247.1:c.307A>C	XP_011509549.1:p.Ile103Leu
XM_011511248.1:c.271A>C	XP_011509550.1:p.Ile91Leu
XM_011511249.1:c.-266-721A>C	XP_011509551.1:n.-266-721A>C
XM_011511250.1:c.-276A>C	XP_011509552.1:n.-276A>C
XM_011511251.1:c.-266-721A>C	XP_011509553.1:n.-266-721A>C
XR_922929.1:n.974A>C
NM_001042702.4:c.202A>C	NP_001036167.1:p.Ile68Leu
NM_001353775.1:c.211A>C	NP_001340704.1:p.Ile71Leu
NM_001353776.1:c.307A>C	NP_001340705.1:p.Ile103Leu
NM_001353777.1:c.-276A>C	NP_001340706.1:n.-276A>C
NM_001353778.1:c.-276A>C	NP_001340707.1:n.-276A>C
XM_005246629.4:c.193A>C	XP_005246686.1:p.Ile65Leu
XM_011511247.3:c.307A>C	XP_011509549.1:p.Ile103Leu
XM_011511249.3:c.-266-721A>C	XP_011509551.1:n.-266-721A>C
XM_017004221.2:c.307A>C	XP_016859710.1:p.Ile103Leu
XM_017004224.2:c.-987A>C	XP_016859713.1:n.-987A>C
XM_024452927.1:c.-377A>C	XP_024308695.1:n.-377A>C
XM_024452928.1:c.-276A>C	XP_024308696.1:n.-276A>C
XR_001738753.2:n.2014A>C
XR_002959300.1:n.2014A>C
XR_922929.3:n.497A>C
NM_001042702.5:c.202A>C MANE Select	NP_001036167.1:p.Ile68Leu
NM_001369912.1:c.202A>C	NP_001356841.1:p.Ile68Leu
NM_001353775.2:c.211A>C	NP_001340704.1:p.Ile71Leu
NM_001353776.2:c.307A>C	NP_001340705.1:p.Ile103Leu
NM_001353778.2:c.-276A>C	NP_001340707.1:n.-276A>C