Canonical Allele Identifier: CA2339837
Community Standard Title: NM_032806.6(POMGNT2):c.1488C>T (p.Gly496=)
Gene: POMGNT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.43079944G>A , CM000665.2:g.43079944G>A GRCh38
NC_000003.11:g.43121436G>A , CM000665.1:g.43121436G>A GRCh37
NC_000003.10:g.43096440G>A NCBI36
NG_032930.1:g.31140C>T

Transcript Alleles

HGVS Amino-acid Change
NM_032806.6:c.1488C>T MANE Select NP_116195.2:p.Gly496=
ENST00000344697.3:c.1488C>T MANE Select ENSP00000344125.2:p.Gly496=
NM_032806.5:c.1488C>T NP_116195.2:p.Gly496=
ENST00000344697.2:c.1488C>T ENSP00000344125.2:p.Gly496=
ENST00000441964.1:c.1488C>T ENSP00000408992.1:p.Gly496=
ENST00000686643.1:c.1488C>T ENSP00000509123.1:p.Gly496=
ENST00000687440.1:c.1488C>T ENSP00000509610.1:p.Gly496=
ENST00000689987.1:c.1488C>T ENSP00000510646.1:p.Gly496=
ENST00000690520.1:n.5433C>T
ENST00000692017.1:c.1488C>T ENSP00000510571.1:p.Gly496=
ENST00000693717.1:c.1488C>T ENSP00000510801.1:p.Gly496=
XM_005265515.1:c.1488C>T XP_005265572.1:p.Gly496=
XM_005265515.3:c.1488C>T XP_005265572.1:p.Gly496=
XM_011534163.1:c.1488C>T XP_011532465.1:p.Gly496=
XM_011534163.2:c.1488C>T XP_011532465.1:p.Gly496=
XM_011534164.1:c.1488C>T XP_011532466.1:p.Gly496=
XM_017007353.1:c.1488C>T XP_016862842.1:p.Gly496=