Canonical Allele Identifier: CA404244291

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12652245C>A , CM000681.2:g.12652245C>A	GRCh38
NC_000019.9:g.12763059C>A , CM000681.1:g.12763059C>A	GRCh37
NC_000019.8:g.12624059C>A	NCBI36
NG_008318.1:g.19533G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000528.4:c.1954G>T MANE Select	NP_000519.2:p.Glu652Ter
ENST00000456935.7:c.1954G>T MANE Select	ENSP00000395473.2:p.Glu652Ter
NM_000528.3:c.1954G>T	NP_000519.2:p.Glu652Ter
NM_001173498.1:c.1951G>T	NP_001166969.1:p.Glu651Ter
NM_001173498.2:c.1951G>T	NP_001166969.1:p.Glu651Ter
ENST00000221363.8:c.1951G>T	ENSP00000221363.4:p.Glu651Ter
ENST00000433513.5:n.560G>T
ENST00000456935.6:c.1954G>T	ENSP00000395473.2:p.Glu652Ter
ENST00000466794.5:n.2544G>T
ENST00000595880.5:n.551G>T
ENST00000596591.1:c.287G>T
XM_005259913.1:c.1957G>T	XP_005259970.1:p.Glu653Ter
XM_005259913.2:c.1957G>T	XP_005259970.1:p.Glu653Ter
XM_011528017.1:c.853G>T	XP_011526319.1:p.Glu285Ter
XM_024451518.1:c.853G>T	XP_024307286.1:p.Glu285Ter