Canonical Allele Identifier: CA15071680
Gene: PFKFB2 HGNC NCBI

Linked Data

dbSNP Id: rs1060286
gnomAD v2: 1-207250300-G-A
gnomAD v3: 1-207076955-G-A
gnomAD v4: 1-207076955-G-A
MyVariant Identifiers: chr1:g.207250300G>A (hg19) chr1:g.207076955G>A (hg38)
Allelic Epigenome: Alellic Epigenome (raw data)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.207076955G>A , CM000663.2:g.207076955G>A GRCh38
NC_000001.10:g.207250300G>A , CM000663.1:g.207250300G>A GRCh37
NC_000001.9:g.205316923G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000367080.8:c.*4584G>A MANE Select ENSP00000356047.3:n.*4584G>A
ENST00000367079.3:c.1351-1999G>A ENSP00000356046.2:n.1351-1999G>A
ENST00000367080.7:c.*4584G>A ENSP00000356047.3:n.*4584G>A
ENST00000411990.6:c.*1133-1999G>A ENSP00000408717.3:n.*1133-1999G>A
ENST00000473310.5:n.171-1999G>A
NM_001018053.1:c.1351-1999G>A NP_001018063.1:n.1351-1999G>A
NM_006212.2:c.*4584G>A MANE Select NP_006203.2:n.*4584G>A
XM_005273162.2:c.*4584G>A XP_005273219.1:n.*4584G>A
XM_006711381.2:c.*4584G>A XP_006711444.1:n.*4584G>A
XM_011509625.1:c.*4584G>A XP_011507927.1:n.*4584G>A
XM_011509626.1:c.*4584G>A XP_011507928.1:n.*4584G>A
XM_011509627.1:c.*4584G>A XP_011507929.1:n.*4584G>A
XM_011509628.1:c.*4584G>A XP_011507930.1:n.*4584G>A
XM_005273162.3:c.*4584G>A XP_005273219.1:n.*4584G>A
XM_024447654.1:c.*4584G>A XP_024303422.1:n.*4584G>A
XM_024447655.1:c.*4584G>A XP_024303423.1:n.*4584G>A
XM_024447656.1:c.*4584G>A XP_024303424.1:n.*4584G>A
XM_024447657.1:c.1351-1999G>A XP_024303425.1:n.1351-1999G>A
NM_001018053.2:c.1351-1999G>A NP_001018063.1:n.1351-1999G>A
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