Canonical Allele Identifier: CA10612980

Gene: PJVK

Linked Data

• ClinVar Variation Id: 332652
• ClinVar RCV Id: RCV000335997
• dbSNP Id: rs886055208
• gnomAD v2: 2-179316407-G-T
• gnomAD v3: 2-178451680-G-T
• gnomAD v4: 2-178451680-G-T
• MyVariant Identifiers: chr2:g.179316407G>T (hg19) ; chr2:g.178451680G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178451680G>T , CM000664.2:g.178451680G>T	GRCh38
NC_000002.11:g.179316407G>T , CM000664.1:g.179316407G>T	GRCh37
NC_000002.10:g.179024653G>T	NCBI36
NG_009053.1:g.4552C>A
NG_012186.1:g.5245G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000642492.1:c.-647G>T	ENSP00000496267.1:n.-647G>T
ENST00000643738.1:c.-536G>T	ENSP00000493684.1:n.-536G>T
ENST00000644580.2:c.-112G>T MANE Select	ENSP00000495855.2:n.-112G>T
ENST00000645817.1:c.-424G>T	ENSP00000495731.1:n.-424G>T
ENST00000409117.7:c.-112G>T	ENSP00000386647.3:n.-112G>T
NM_001042702.3:c.-112G>T	NP_001036167.1:n.-112G>T
XM_005246627.1:c.-161G>T	XP_005246684.1:n.-161G>T
XM_005246629.2:c.-78G>T	XP_005246686.1:n.-78G>T
XM_011511249.1:c.-356G>T	XP_011509551.1:n.-356G>T
XM_011511251.1:c.-267+1072G>T	XP_011509553.1:n.-267+1072G>T
NM_001042702.4:c.-112G>T	NP_001036167.1:n.-112G>T
NM_001353775.1:c.-161G>T	NP_001340704.1:n.-161G>T
NM_001353777.1:c.-424G>T	NP_001340706.1:n.-424G>T
XM_005246629.4:c.-78G>T	XP_005246686.1:n.-78G>T
XM_011511249.3:c.-356G>T	XP_011509551.1:n.-356G>T
XM_024452927.1:c.-647G>T	XP_024308695.1:n.-647G>T
XR_001738753.2:n.83G>T
XR_002959300.1:n.83G>T
NM_001042702.5:c.-112G>T MANE Select	NP_001036167.1:n.-112G>T
NM_001353775.2:c.-161G>T	NP_001340704.1:n.-161G>T