Canonical Allele Identifier: CA10611570

Gene: PJVK

Linked Data

• ClinVar Variation Id: 332650
• ClinVar RCV Id: RCV000402390
• dbSNP Id: rs796484753
• gnomAD v2: 2-179316318-C-G
• gnomAD v3: 2-178451591-C-G
• gnomAD v4: 2-178451591-C-G
• MyVariant Identifiers: chr2:g.179316318C>G (hg19) ; chr2:g.178451591C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178451591C>G , CM000664.2:g.178451591C>G	GRCh38
NC_000002.11:g.179316318C>G , CM000664.1:g.179316318C>G	GRCh37
NC_000002.10:g.179024564C>G	NCBI36
NG_009053.1:g.4641G>C
NG_012186.1:g.5156C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000642492.1:c.-736C>G	ENSP00000496267.1:n.-736C>G
ENST00000643738.1:c.-625C>G	ENSP00000493684.1:n.-625C>G
ENST00000644580.2:c.-201C>G MANE Select	ENSP00000495855.2:n.-201C>G
ENST00000645817.1:c.-513C>G	ENSP00000495731.1:n.-513C>G
ENST00000409117.7:c.-201C>G	ENSP00000386647.3:n.-201C>G
NM_001042702.3:c.-201C>G	NP_001036167.1:n.-201C>G
XM_005246627.1:c.-250C>G	XP_005246684.1:n.-250C>G
XM_005246629.2:c.-167C>G	XP_005246686.1:n.-167C>G
XM_011511249.1:c.-445C>G	XP_011509551.1:n.-445C>G
XM_011511251.1:c.-267+983C>G	XP_011509553.1:n.-267+983C>G
NM_001042702.4:c.-201C>G	NP_001036167.1:n.-201C>G
NM_001353775.1:c.-250C>G	NP_001340704.1:n.-250C>G
NM_001353777.1:c.-513C>G	NP_001340706.1:n.-513C>G
XM_005246629.4:c.-167C>G	XP_005246686.1:n.-167C>G
XM_011511249.3:c.-445C>G	XP_011509551.1:n.-445C>G
XM_024452927.1:c.-736C>G	XP_024308695.1:n.-736C>G
NM_001042702.5:c.-201C>G MANE Select	NP_001036167.1:n.-201C>G