Canonical Allele Identifier: CA1049397719
Gene: PROK2 HGNC NCBI

Linked Data

dbSNP Id: rs2050198800
gnomAD v3: 3-71784820-G-T
gnomAD v4: 3-71784820-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.71784820G>T , CM000665.2:g.71784820G>T GRCh38
NC_000003.11:g.71833971G>T , CM000665.1:g.71833971G>T GRCh37
NC_000003.10:g.71916661G>T NCBI36
NG_008275.1:g.5387C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295619.4:c.96+137C>A MANE Select ENSP00000295619.3:n.96+137C>A
ENST00000295619.3:c.96+137C>A ENSP00000295619.3:n.96+137C>A
ENST00000353065.7:c.96+137C>A ENSP00000295618.3:n.96+137C>A
NM_001126128.1:c.96+137C>A NP_001119600.1:n.96+137C>A
NM_021935.3:c.96+137C>A NP_068754.1:n.96+137C>A
NM_001126128.2:c.96+137C>A MANE Select NP_001119600.1:n.96+137C>A
NM_021935.4:c.96+137C>A NP_068754.1:n.96+137C>A
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