Canonical Allele Identifier: CA2573156086

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 1420628
• ClinVar RCV Id: RCV001914417
• dbSNP Id: rs2145290929

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665793_12665802del , CM000681.2:g.12665793_12665802del	GRCh38
NC_000019.9:g.12776607_12776616del , CM000681.1:g.12776607_12776616del	GRCh37
NC_000019.8:g.12637607_12637616del	NCBI36
NG_008318.1:g.5979_5988del
NG_015814.1:g.3990_3999del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.166_175del MANE Select	ENSP00000395473.2:p.Pro56SerfsTer5
ENST00000221363.8:c.166_175del	ENSP00000221363.4:p.Pro56SerfsTer5
ENST00000456935.6:c.166_175del	ENSP00000395473.2:p.Pro56SerfsTer5
ENST00000466794.5:n.148_157del
ENST00000486847.2:c.160-274_160-265del	ENSP00000470174.1:n.160-274_160-265del
ENST00000596512.5:n.201-274_201-265del
ENST00000597961.1:c.157_166del	ENSP00000472710.1:p.Pro53SerfsTer5
ENST00000598876.1:c.193_202del	ENSP00000470533.1:p.Pro65SerfsTer5
ENST00000600281.1:n.207_216del
NM_000528.3:c.166_175del	NP_000519.2:p.Pro56SerfsTer5
NM_001173498.1:c.166_175del	NP_001166969.1:p.Pro56SerfsTer5
XM_005259913.1:c.166_175del	XP_005259970.1:p.Pro56SerfsTer5
XM_005259913.2:c.166_175del	XP_005259970.1:p.Pro56SerfsTer5
XM_024451518.1:c.-853_-844del	XP_024307286.1:n.-853_-844del
NM_000528.4:c.166_175del MANE Select	NP_000519.2:p.Pro56SerfsTer5
NM_001173498.2:c.166_175del	NP_001166969.1:p.Pro56SerfsTer5