Canonical Allele Identifier: CA543597834
Gene: PROK2 HGNC NCBI

Linked Data

dbSNP Id: rs1455891769
gnomAD v2: 3-71833974-G-A
gnomAD v3: 3-71784823-G-A
gnomAD v4: 3-71784823-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.71784823G>A , CM000665.2:g.71784823G>A GRCh38
NC_000003.11:g.71833974G>A , CM000665.1:g.71833974G>A GRCh37
NC_000003.10:g.71916664G>A NCBI36
NG_008275.1:g.5384C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295619.4:c.96+134C>T MANE Select ENSP00000295619.3:n.96+134C>T
ENST00000295619.3:c.96+134C>T ENSP00000295619.3:n.96+134C>T
ENST00000353065.7:c.96+134C>T ENSP00000295618.3:n.96+134C>T
NM_001126128.1:c.96+134C>T NP_001119600.1:n.96+134C>T
NM_021935.3:c.96+134C>T NP_068754.1:n.96+134C>T
NM_001126128.2:c.96+134C>T MANE Select NP_001119600.1:n.96+134C>T
NM_021935.4:c.96+134C>T NP_068754.1:n.96+134C>T