Canonical Allele Identifier: CA2573156087

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 1365083
• ClinVar RCV Id: RCV001907827
• dbSNP Id: rs2145290975

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665804_12665805del , CM000681.2:g.12665804_12665805del	GRCh38
NC_000019.9:g.12776618_12776619del , CM000681.1:g.12776618_12776619del	GRCh37
NC_000019.8:g.12637618_12637619del	NCBI36
NG_008318.1:g.5974_5975del
NG_015814.1:g.4001_4002del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.161_162del MANE Select	ENSP00000395473.2:p.Thr54MetfsTer19
ENST00000221363.8:c.161_162del	ENSP00000221363.4:p.Thr54MetfsTer19
ENST00000456935.6:c.161_162del	ENSP00000395473.2:p.Thr54MetfsTer19
ENST00000466794.5:n.143_144del
ENST00000486847.2:c.160-279_160-278del	ENSP00000470174.1:n.160-279_160-278del
ENST00000596512.5:n.201-279_201-278del
ENST00000597961.1:c.152_153del	ENSP00000472710.1:p.Thr51MetfsTer19
ENST00000598876.1:c.188_189del	ENSP00000470533.1:p.Thr63MetfsTer19
ENST00000600281.1:n.202_203del
NM_000528.3:c.161_162del	NP_000519.2:p.Thr54MetfsTer19
NM_001173498.1:c.161_162del	NP_001166969.1:p.Thr54MetfsTer19
XM_005259913.1:c.161_162del	XP_005259970.1:p.Thr54MetfsTer19
XM_005259913.2:c.161_162del	XP_005259970.1:p.Thr54MetfsTer19
XM_024451518.1:c.-858_-857del	XP_024307286.1:n.-858_-857del
NM_000528.4:c.161_162del MANE Select	NP_000519.2:p.Thr54MetfsTer19
NM_001173498.2:c.161_162del	NP_001166969.1:p.Thr54MetfsTer19