Canonical Allele Identifier: CA252840
Gene: PROK2 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.71784959C>G
GRCh37 chr3:g.71834110C>G
Revel Score:
ENST00000353065 0.831
ENST00000295619 (MANE Select) 0.831
gnomAD v2:
3:71834110 C / G
gnomAD v3:
3:71784959 C / G
gnomAD v4:
chr3-71784959-C-G
Joint Max Group AF 0.00005871 (NFE)
Genomes Max Group AF 0.00002847 (NFE)
Exomes Max Group AF 0.0000578 (NFE)
ClinVar RCV:
RCV000003784
RCV003415642
ClinVar Variation:
3601
dbSNP:
104893767
JSON-LD

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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