Canonical Allele Identifier: CA2813645587

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665772_12665802dup , CM000681.2:g.12665772_12665802dup	GRCh38
NC_000019.9:g.12776586_12776616dup , CM000681.1:g.12776586_12776616dup	GRCh37
NC_000019.8:g.12637586_12637616dup	NCBI36
NG_008318.1:g.5979_6009dup
NG_015814.1:g.3969_3999dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.166_196dup MANE Select	ENSP00000395473.2:p.His66ProfsTer18
ENST00000221363.8:c.166_196dup	ENSP00000221363.4:p.His66ProfsTer18
ENST00000456935.6:c.166_196dup	ENSP00000395473.2:p.His66ProfsTer18
ENST00000466794.5:n.148_178dup
ENST00000486847.2:c.160-274_160-244dup	ENSP00000470174.1:n.160-274_160-244dup
ENST00000596512.5:n.201-274_201-244dup
ENST00000597961.1:c.157_187dup	ENSP00000472710.1:p.His63ProfsTer18
ENST00000598876.1:c.193_223dup	ENSP00000470533.1:p.His75ProfsTer18
ENST00000600281.1:n.207_237dup
NM_000528.3:c.166_196dup	NP_000519.2:p.His66ProfsTer18
NM_001173498.1:c.166_196dup	NP_001166969.1:p.His66ProfsTer18
XM_005259913.1:c.166_196dup	XP_005259970.1:p.His66ProfsTer18
XM_005259913.2:c.166_196dup	XP_005259970.1:p.His66ProfsTer18
XM_024451518.1:c.-853_-823dup	XP_024307286.1:n.-853_-823dup
NM_000528.4:c.166_196dup MANE Select	NP_000519.2:p.His66ProfsTer18
NM_001173498.2:c.166_196dup	NP_001166969.1:p.His66ProfsTer18