Canonical Allele Identifier: CA2519020552

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647640_12647641insTAAAGTGAA , CM000681.2:g.12647640_12647641insTAAAGTGAA	GRCh38
NC_000019.9:g.12758454_12758455insTAAAGTGAA , CM000681.1:g.12758454_12758455insTAAAGTGAA	GRCh37
NC_000019.8:g.12619454_12619455insTAAAGTGAA	NCBI36
NG_008318.1:g.24137_24138insTTCACTTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2665-43_2665-42insTTCACTTTA MANE Select	ENSP00000395473.2:n.2665-43_2665-42insTTCACTTTA
ENST00000221363.8:c.2662-43_2662-42insTTCACTTTA	ENSP00000221363.4:n.2662-43_2662-42insTTCACTTTA
ENST00000456935.6:c.2665-43_2665-42insTTCACTTTA	ENSP00000395473.2:n.2665-43_2665-42insTTCACTTTA
ENST00000466794.5:n.3255-43_3255-42insTTCACTTTA
ENST00000493218.5:n.33_34insTTCACTTTA
ENST00000597692.1:c.224-43_224-42insTTCACTTTA
NM_000528.3:c.2665-43_2665-42insTTCACTTTA	NP_000519.2:n.2665-43_2665-42insTTCACTTTA
NM_001173498.1:c.2662-43_2662-42insTTCACTTTA	NP_001166969.1:n.2662-43_2662-42insTTCACTTTA
XM_005259913.1:c.2668-43_2668-42insTTCACTTTA	XP_005259970.1:n.2668-43_2668-42insTTCACTTTA
XM_011528017.1:c.1564-43_1564-42insTTCACTTTA	XP_011526319.1:n.1564-43_1564-42insTTCACTTTA
XM_005259913.2:c.2668-43_2668-42insTTCACTTTA	XP_005259970.1:n.2668-43_2668-42insTTCACTTTA
XM_024451518.1:c.1564-43_1564-42insTTCACTTTA	XP_024307286.1:n.1564-43_1564-42insTTCACTTTA
NM_000528.4:c.2665-43_2665-42insTTCACTTTA MANE Select	NP_000519.2:n.2665-43_2665-42insTTCACTTTA
NM_001173498.2:c.2662-43_2662-42insTTCACTTTA	NP_001166969.1:n.2662-43_2662-42insTTCACTTTA