Canonical Allele Identifier: CA353501285
Gene: PROK2 HGNC NCBI

Linked Data

dbSNP Id: rs587777863
gnomAD v4: 3-71784983-C-A
MyVariant Identifiers: chr3:g.71834134C>A (hg19) chr3:g.71784983C>A (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000295619.4:c.70G>T MANE Select ENSP00000295619.3:p.Ala24Ser
ENST00000295619.3:c.70G>T ENSP00000295619.3:p.Ala24Ser
ENST00000353065.7:c.70G>T ENSP00000295618.3:p.Ala24Ser
NM_001126128.1:c.70G>T NP_001119600.1:p.Ala24Ser
NM_021935.3:c.70G>T NP_068754.1:p.Ala24Ser
NM_001126128.2:c.70G>T MANE Select NP_001119600.1:p.Ala24Ser
NM_021935.4:c.70G>T NP_068754.1:p.Ala24Ser
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