Canonical Allele Identifier: CA1604563734
Gene: GFPT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.180304014T>A , CM000667.2:g.180304014T>A GRCh38
NC_000005.9:g.179731014T>A , CM000667.1:g.179731014T>A GRCh37
NC_000005.8:g.179663620T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000253778.13:c.1842+758A>T MANE Select ENSP00000253778.8:n.1842+758A>T
ENST00000253778.12:c.1842+758A>T ENSP00000253778.8:n.1842+758A>T
NM_005110.2:c.1842+758A>T NP_005101.1:n.1842+758A>T
XM_006714942.1:c.1842+758A>T XP_006715005.1:n.1842+758A>T
NM_005110.3:c.1842+758A>T NP_005101.1:n.1842+758A>T
XM_006714942.2:c.1842+758A>T XP_006715005.1:n.1842+758A>T
XM_017010100.2:c.1317+758A>T XP_016865589.1:n.1317+758A>T
XR_001742394.1:n.2366+758A>T
NM_005110.4:c.1842+758A>T MANE Select NP_005101.1:n.1842+758A>T