Canonical Allele Identifier: CA2492025

Gene: PROK2

Linked Data

• ClinVar Variation Id: 378430
• ClinVar RCV Id: RCV000418095 ; RCV000861058 ; RCV002506018
• dbSNP Id: rs372623686
• ExAC: 3:71834120 G / C
• gnomAD v2: 3-71834120-G-C
• gnomAD v3: 3-71784969-G-C
• gnomAD v4: 3-71784969-G-C
• MyVariant Identifiers: chr3:g.71834120G>C (hg19) ; chr3:g.71784969G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.71784969G>C , CM000665.2:g.71784969G>C	GRCh38
NC_000003.11:g.71834120G>C , CM000665.1:g.71834120G>C	GRCh37
NC_000003.10:g.71916810G>C	NCBI36
NG_008275.1:g.5238C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295619.4:c.84C>G MANE Select	ENSP00000295619.3:p.Ala28=
ENST00000295619.3:c.84C>G	ENSP00000295619.3:p.Ala28=
ENST00000353065.7:c.84C>G	ENSP00000295618.3:p.Ala28=
NM_001126128.1:c.84C>G	NP_001119600.1:p.Ala28=
NM_021935.3:c.84C>G	NP_068754.1:p.Ala28=
NM_001126128.2:c.84C>G MANE Select	NP_001119600.1:p.Ala28=
NM_021935.4:c.84C>G	NP_068754.1:p.Ala28=