Canonical Allele Identifier: CA2340138
Gene: POMGNT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.43081242C>T , CM000665.2:g.43081242C>T GRCh38
NC_000003.11:g.43122734C>T , CM000665.1:g.43122734C>T GRCh37
NC_000003.10:g.43097738C>T NCBI36
NG_032930.1:g.29842G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000686643.1:c.190G>A ENSP00000509123.1:p.Gly64Ser
ENST00000687440.1:c.190G>A ENSP00000509610.1:p.Gly64Ser
ENST00000689987.1:c.190G>A ENSP00000510646.1:p.Gly64Ser
ENST00000690520.1:n.4135G>A
ENST00000692017.1:c.190G>A ENSP00000510571.1:p.Gly64Ser
ENST00000693717.1:c.190G>A ENSP00000510801.1:p.Gly64Ser
ENST00000344697.3:c.190G>A MANE Select ENSP00000344125.2:p.Gly64Ser
ENST00000344697.2:c.190G>A ENSP00000344125.2:p.Gly64Ser
ENST00000441964.1:c.190G>A ENSP00000408992.1:p.Gly64Ser
NM_032806.5:c.190G>A NP_116195.2:p.Gly64Ser
XM_005265515.1:c.190G>A XP_005265572.1:p.Gly64Ser
XM_011534163.1:c.190G>A XP_011532465.1:p.Gly64Ser
XM_011534164.1:c.190G>A XP_011532466.1:p.Gly64Ser
XM_005265515.3:c.190G>A XP_005265572.1:p.Gly64Ser
XM_011534163.2:c.190G>A XP_011532465.1:p.Gly64Ser
XM_017007353.1:c.190G>A XP_016862842.1:p.Gly64Ser
NM_032806.6:c.190G>A MANE Select NP_116195.2:p.Gly64Ser