Canonical Allele Identifier: CA2832579028

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12663727dup , CM000681.2:g.12663727dup	GRCh38
NC_000019.9:g.12774541dup , CM000681.1:g.12774541dup	GRCh37
NC_000019.8:g.12635541dup	NCBI36
NG_008318.1:g.8055dup
NG_015814.1:g.1924dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.743dup MANE Select	ENSP00000395473.2:p.Thr249AspfsTer?
ENST00000221363.8:c.743dup	ENSP00000221363.4:p.Thr249AspfsTer?
ENST00000456935.6:c.743dup	ENSP00000395473.2:p.Thr249AspfsTer?
ENST00000466794.5:n.725dup
ENST00000486847.2:c.446dup	ENSP00000470174.1:p.Thr150AspfsTer?
NM_000528.3:c.743dup	NP_000519.2:p.Thr249AspfsTer?
NM_001173498.1:c.743dup	NP_001166969.1:p.Thr249AspfsTer?
XM_005259913.1:c.743dup	XP_005259970.1:p.Thr249AspfsTer?
XM_005259913.2:c.743dup	XP_005259970.1:p.Thr249AspfsTer?
XM_024451518.1:c.-276dup	XP_024307286.1:n.-276dup
NM_000528.4:c.743dup MANE Select	NP_000519.2:p.Thr249AspfsTer?
NM_001173498.2:c.743dup	NP_001166969.1:p.Thr249AspfsTer?