Canonical Allele Identifier: CA252841

Gene: PROK2

Linked Data

• ClinVar Variation Id: 3603
• ClinVar RCV Id: RCV000003786 ; RCV000516187 ; RCV003892107 ; RCV003991567
• dbSNP Id: rs554675432
• ExAC: 3:71830676 AT / A
• gnomAD v2: 3-71830676-AT-A
• gnomAD v3: 3-71781525-AT-A
• gnomAD v4: 3-71781525-AT-A
• MyVariant Identifiers: chr3:g.71830677del (hg19) ; chr3:g.71781526del (hg38)
• PubMed: PMID:17959774 ; PMID:18285834 ; PMID:18559922 ; PMID:18682503 ; PMID:23643382 ; PMID:24423319

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.71781526del , CM000665.2:g.71781526del	GRCh38
NC_000003.11:g.71830677del , CM000665.1:g.71830677del	GRCh37
NC_000003.10:g.71913367del	NCBI36
NG_008275.1:g.8681del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295619.4:c.163del MANE Select	ENSP00000295619.3:p.Ile55Ter
ENST00000295619.3:c.163del	ENSP00000295619.3:p.Ile55Ter
ENST00000353065.7:c.163del	ENSP00000295618.3:p.Ile55Ter
NM_001126128.1:c.163del	NP_001119600.1:p.Ile55Ter
NM_021935.3:c.163del	NP_068754.1:p.Ile55Ter
XM_017006974.1:c.103del	XP_016862463.1:p.Ile35Ter
NM_001126128.2:c.163del MANE Select	NP_001119600.1:p.Ile55Ter
NM_021935.4:c.163del	NP_068754.1:p.Ile55Ter