Canonical Allele Identifier: CA2650244345

Gene: PFKFB2

Linked Data

• gnomAD v4: 1-207076859-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207076859C>T , CM000663.2:g.207076859C>T	GRCh38
NC_000001.10:g.207250204C>T , CM000663.1:g.207250204C>T	GRCh37
NC_000001.9:g.205316827C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000367080.8:c.*4488C>T MANE Select	ENSP00000356047.3:n.*4488C>T
ENST00000367079.3:c.1351-2095C>T	ENSP00000356046.2:n.1351-2095C>T
ENST00000367080.7:c.*4488C>T	ENSP00000356047.3:n.*4488C>T
ENST00000411990.6:c.*1133-2095C>T	ENSP00000408717.3:n.*1133-2095C>T
ENST00000473310.5:n.171-2095C>T
NM_001018053.1:c.1351-2095C>T	NP_001018063.1:n.1351-2095C>T
NM_006212.2:c.*4488C>T MANE Select	NP_006203.2:n.*4488C>T
XM_005273162.2:c.*4488C>T	XP_005273219.1:n.*4488C>T
XM_006711381.2:c.*4488C>T	XP_006711444.1:n.*4488C>T
XM_011509625.1:c.*4488C>T	XP_011507927.1:n.*4488C>T
XM_011509626.1:c.*4488C>T	XP_011507928.1:n.*4488C>T
XM_011509627.1:c.*4488C>T	XP_011507929.1:n.*4488C>T
XM_011509628.1:c.*4488C>T	XP_011507930.1:n.*4488C>T
XM_005273162.3:c.*4488C>T	XP_005273219.1:n.*4488C>T
XM_024447654.1:c.*4488C>T	XP_024303422.1:n.*4488C>T
XM_024447655.1:c.*4488C>T	XP_024303423.1:n.*4488C>T
XM_024447656.1:c.*4488C>T	XP_024303424.1:n.*4488C>T
XM_024447657.1:c.1351-2095C>T	XP_024303425.1:n.1351-2095C>T
NM_001018053.2:c.1351-2095C>T	NP_001018063.1:n.1351-2095C>T