Canonical Allele Identifier: CA270915
Gene: PROK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 156561
ClinVar RCV Id: RCV000144711
dbSNP Id: rs587777864
gnomAD v3: 3-71781588-C-T
gnomAD v4: 3-71781588-C-T
MyVariant Identifiers: chr3:g.71830739C>T (hg19) chr3:g.71781588C>T (hg38)
PubMed: PMID:18559922
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.71781588C>T , CM000665.2:g.71781588C>T GRCh38
NC_000003.11:g.71830739C>T , CM000665.1:g.71830739C>T GRCh37
NC_000003.10:g.71913429C>T NCBI36
NG_008275.1:g.8619G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295619.4:c.101G>A MANE Select ENSP00000295619.3:p.Cys34Tyr
ENST00000295619.3:c.101G>A ENSP00000295619.3:p.Cys34Tyr
ENST00000353065.7:c.101G>A ENSP00000295618.3:p.Cys34Tyr
NM_001126128.1:c.101G>A NP_001119600.1:p.Cys34Tyr
NM_021935.3:c.101G>A NP_068754.1:p.Cys34Tyr
XM_017006974.1:c.41G>A XP_016862463.1:p.Cys14Tyr
NM_001126128.2:c.101G>A MANE Select NP_001119600.1:p.Cys34Tyr
NM_021935.4:c.101G>A NP_068754.1:p.Cys34Tyr
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