Canonical Allele Identifier: CA2576635003

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657010_12657011del , CM000681.2:g.12657010_12657011del	GRCh38
NC_000019.9:g.12767824_12767825del , CM000681.1:g.12767824_12767825del	GRCh37
NC_000019.8:g.12628824_12628825del	NCBI36
NG_008318.1:g.14768_14769del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1466_1467del MANE Select	ENSP00000395473.2:p.His489LeufsTer27
ENST00000221363.8:c.1463_1464del	ENSP00000221363.4:p.His488LeufsTer27
ENST00000433513.5:n.72_73del
ENST00000456935.6:c.1466_1467del	ENSP00000395473.2:p.His489LeufsTer27
ENST00000466794.5:n.1365_1366del
ENST00000495617.1:n.642_643del
ENST00000593686.1:c.76_77del
ENST00000595880.5:n.63_64del
NM_000528.3:c.1466_1467del	NP_000519.2:p.His489LeufsTer27
NM_001173498.1:c.1463_1464del	NP_001166969.1:p.His488LeufsTer27
XM_005259913.1:c.1469_1470del	XP_005259970.1:p.His490LeufsTer27
XM_011528017.1:c.365_366del	XP_011526319.1:p.His122LeufsTer27
XM_005259913.2:c.1469_1470del	XP_005259970.1:p.His490LeufsTer27
XM_024451518.1:c.365_366del	XP_024307286.1:p.His122LeufsTer27
NM_000528.4:c.1466_1467del MANE Select	NP_000519.2:p.His489LeufsTer27
NM_001173498.2:c.1463_1464del	NP_001166969.1:p.His488LeufsTer27