Canonical Allele Identifier: CA2499225366

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 1069975
• ClinVar RCV Id: RCV001381974
• dbSNP Id: rs2145289566

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665464_12665465delinsTT , CM000681.2:g.12665464_12665465delinsTT	GRCh38
NC_000019.9:g.12776278_12776279delinsTT , CM000681.1:g.12776278_12776279delinsTT	GRCh37
NC_000019.8:g.12637278_12637279delinsTT	NCBI36
NG_008318.1:g.6313_6314delinsAA
NG_015814.1:g.3661_3662delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.323_324delinsAA MANE Select	ENSP00000395473.2:p.Leu108Ter
ENST00000221363.8:c.323_324delinsAA	ENSP00000221363.4:p.Leu108Ter
ENST00000456935.6:c.323_324delinsAA	ENSP00000395473.2:p.Leu108Ter
ENST00000466794.5:n.305_306delinsAA
ENST00000486847.2:c.220_221delinsAA	ENSP00000470174.1:p.Cys74Asn
ENST00000596512.5:n.261_262delinsAA
ENST00000597961.1:c.314_315delinsAA	ENSP00000472710.1:p.Leu105Ter
ENST00000598876.1:c.350_351delinsAA	ENSP00000470533.1:p.Leu117Ter
ENST00000600281.1:n.364_365delinsAA
NM_000528.3:c.323_324delinsAA	NP_000519.2:p.Leu108Ter
NM_001173498.1:c.323_324delinsAA	NP_001166969.1:p.Leu108Ter
XM_005259913.1:c.323_324delinsAA	XP_005259970.1:p.Leu108Ter
XM_005259913.2:c.323_324delinsAA	XP_005259970.1:p.Leu108Ter
XM_024451518.1:c.-696_-695delinsAA	XP_024307286.1:n.-696_-695delinsAA
NM_000528.4:c.323_324delinsAA MANE Select	NP_000519.2:p.Leu108Ter
NM_001173498.2:c.323_324delinsAA	NP_001166969.1:p.Leu108Ter