Canonical Allele Identifier: CA270914
Gene: PROK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 156560
ClinVar RCV Id: RCV000144710 RCV003965087
dbSNP Id: rs587777863
gnomAD v2: 3-71834134-C-G
gnomAD v3: 3-71784983-C-G
gnomAD v4: 3-71784983-C-G
MyVariant Identifiers: chr3:g.71834134C>G (hg19) chr3:g.71784983C>G (hg38)
PubMed: PMID:18559922
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.71784983C>G , CM000665.2:g.71784983C>G GRCh38
NC_000003.11:g.71834134C>G , CM000665.1:g.71834134C>G GRCh37
NC_000003.10:g.71916824C>G NCBI36
NG_008275.1:g.5224G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000295619.4:c.70G>C MANE Select ENSP00000295619.3:p.Ala24Pro
ENST00000295619.3:c.70G>C ENSP00000295619.3:p.Ala24Pro
ENST00000353065.7:c.70G>C ENSP00000295618.3:p.Ala24Pro
NM_001126128.1:c.70G>C NP_001119600.1:p.Ala24Pro
NM_021935.3:c.70G>C NP_068754.1:p.Ala24Pro
NM_001126128.2:c.70G>C MANE Select NP_001119600.1:p.Ala24Pro
NM_021935.4:c.70G>C NP_068754.1:p.Ala24Pro
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