Canonical Allele Identifier: CA2340042

Gene: POMGNT2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43080871G>A , CM000665.2:g.43080871G>A	GRCh38
NC_000003.11:g.43122363G>A , CM000665.1:g.43122363G>A	GRCh37
NC_000003.10:g.43097367G>A	NCBI36
NG_032930.1:g.30213C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686643.1:c.561C>T	ENSP00000509123.1:p.His187=
ENST00000687440.1:c.561C>T	ENSP00000509610.1:p.His187=
ENST00000689987.1:c.561C>T	ENSP00000510646.1:p.His187=
ENST00000690520.1:n.4506C>T
ENST00000692017.1:c.561C>T	ENSP00000510571.1:p.His187=
ENST00000693717.1:c.561C>T	ENSP00000510801.1:p.His187=
ENST00000344697.3:c.561C>T MANE Select	ENSP00000344125.2:p.His187=
ENST00000344697.2:c.561C>T	ENSP00000344125.2:p.His187=
ENST00000441964.1:c.561C>T	ENSP00000408992.1:p.His187=
NM_032806.5:c.561C>T	NP_116195.2:p.His187=
XM_005265515.1:c.561C>T	XP_005265572.1:p.His187=
XM_011534163.1:c.561C>T	XP_011532465.1:p.His187=
XM_011534164.1:c.561C>T	XP_011532466.1:p.His187=
XM_005265515.3:c.561C>T	XP_005265572.1:p.His187=
XM_011534163.2:c.561C>T	XP_011532465.1:p.His187=
XM_017007353.1:c.561C>T	XP_016862842.1:p.His187=
NM_032806.6:c.561C>T MANE Select	NP_116195.2:p.His187=