Canonical Allele Identifier: CA2491964
Gene: PROK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 420068
ClinVar RCV Id: RCV000486838 RCV002295299 RCV003401531 RCV003419793
dbSNP Id: rs768413190
ExAC: 3:71821967 C / CA
gnomAD v2: 3-71821967-C-CA
gnomAD v3: 3-71772816-C-CA
gnomAD v4: 3-71772816-C-CA
COSMIC: COSM1263139
MyVariant Identifiers: chr3:g.71821968dupA (hg19) chr3:g.71821968_71821969insA (hg19) chr3:g.71821967_71821968insA (hg19) chr3:g.71772817dupA (hg38) chr3:g.71772817_71772818insA (hg38) chr3:g.71772816_71772817insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.71772822dup , CM000665.2:g.71772822dup GRCh38
NC_000003.11:g.71821973dup , CM000665.1:g.71821973dup GRCh37
NC_000003.10:g.71904663dup NCBI36
NG_008275.1:g.17390dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000295619.4:c.297dup MANE Select ENSP00000295619.3:p.Gly100TrpfsTer22
ENST00000295619.3:c.297dup ENSP00000295619.3:p.Gly100TrpfsTer22
ENST00000353065.7:c.234dup ENSP00000295618.3:p.Gly79TrpfsTer22
NM_001126128.1:c.297dup NP_001119600.1:p.Gly100TrpfsTer22
NM_021935.3:c.234dup NP_068754.1:p.Gly79TrpfsTer22
XM_017006974.1:c.237dup XP_016862463.1:p.Gly80TrpfsTer22
NM_001126128.2:c.297dup MANE Select NP_001119600.1:p.Gly100TrpfsTer22
NM_021935.4:c.234dup NP_068754.1:p.Gly79TrpfsTer22
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