Canonical Allele Identifier: CA252840
Gene: PROK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3601
ClinVar RCV Id: RCV000003784 RCV003415642
dbSNP Id: rs104893767
ExAC: 3:71834110 C / G
gnomAD v2: 3-71834110-C-G
gnomAD v3: 3-71784959-C-G
gnomAD v4: 3-71784959-C-G
MyVariant Identifiers: chr3:g.71834110C>G (hg19) chr3:g.71784959C>G (hg38)
PubMed: PMID:17054399
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.71784959C>G , CM000665.2:g.71784959C>G GRCh38
NC_000003.11:g.71834110C>G , CM000665.1:g.71834110C>G GRCh37
NC_000003.10:g.71916800C>G NCBI36
NG_008275.1:g.5248G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000295619.4:c.94G>C MANE Select ENSP00000295619.3:p.Gly32Arg
ENST00000295619.3:c.94G>C ENSP00000295619.3:p.Gly32Arg
ENST00000353065.7:c.94G>C ENSP00000295618.3:p.Gly32Arg
NM_001126128.1:c.94G>C NP_001119600.1:p.Gly32Arg
NM_021935.3:c.94G>C NP_068754.1:p.Gly32Arg
NM_001126128.2:c.94G>C MANE Select NP_001119600.1:p.Gly32Arg
NM_021935.4:c.94G>C NP_068754.1:p.Gly32Arg
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