Canonical Allele Identifier: CA2323498553

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647276_12647292delinsCTGGTTGGCCACCAGCG , CM000681.2:g.12647276_12647292delinsCTGGTTGGCCACCAGCG	GRCh38
NC_000019.9:g.12758090_12758106delinsCTGGTTGGCCACCAGCG , CM000681.1:g.12758090_12758106delinsCTGGTTGGCCACCAGCG	GRCh37
NC_000019.8:g.12619090_12619106delinsCTGGTTGGCCACCAGCG	NCBI36
NG_008318.1:g.24486_24502delinsCGCTGGTGGCCAACCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2864_2880delinsCGCTGGTGGCCAACCAG MANE Select	ENSP00000395473.2:p.Thr955=
ENST00000221363.8:c.2861_2877delinsCGCTGGTGGCCAACCAG	ENSP00000221363.4:p.Thr954=
ENST00000456935.6:c.2864_2880delinsCGCTGGTGGCCAACCAG	ENSP00000395473.2:p.Thr955=
ENST00000466794.5:n.3454_3470delinsCGCTGGTGGCCAACCAG
ENST00000469423.1:n.293_309delinsCGCTGGTGGCCAACCAG
ENST00000493218.5:n.275_291delinsCGCTGGTGGCCAACCAG
ENST00000597692.1:c.423_439delinsCGCTGGTGGCCAACCAG
NM_000528.3:c.2864_2880delinsCGCTGGTGGCCAACCAG	NP_000519.2:p.Thr955=
NM_001173498.1:c.2861_2877delinsCGCTGGTGGCCAACCAG	NP_001166969.1:p.Thr954=
XM_005259913.1:c.2867_2883delinsCGCTGGTGGCCAACCAG	XP_005259970.1:p.Thr956=
XM_011528017.1:c.1763_1779delinsCGCTGGTGGCCAACCAG	XP_011526319.1:p.Thr588=
XM_005259913.2:c.2867_2883delinsCGCTGGTGGCCAACCAG	XP_005259970.1:p.Thr956=
XM_024451518.1:c.1763_1779delinsCGCTGGTGGCCAACCAG	XP_024307286.1:p.Thr588=
NM_000528.4:c.2864_2880delinsCGCTGGTGGCCAACCAG MANE Select	NP_000519.2:p.Thr955=
NM_001173498.2:c.2861_2877delinsCGCTGGTGGCCAACCAG	NP_001166969.1:p.Thr954=