Canonical Allele Identifier: CA2499225360

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 1073941
• ClinVar RCV Id: RCV001387084
• dbSNP Id: rs2145221516

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647513_12647516del , CM000681.2:g.12647513_12647516del	GRCh38
NC_000019.9:g.12758327_12758330del , CM000681.1:g.12758327_12758330del	GRCh37
NC_000019.8:g.12619327_12619330del	NCBI36
NG_008318.1:g.24263_24266del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2748_2751del MANE Select	ENSP00000395473.2:p.Leu917SerfsTer6
ENST00000221363.8:c.2745_2748del	ENSP00000221363.4:p.Leu916SerfsTer6
ENST00000456935.6:c.2748_2751del	ENSP00000395473.2:p.Leu917SerfsTer6
ENST00000466794.5:n.3338_3341del
ENST00000469423.1:n.70_73del
ENST00000493218.5:n.159_162del
ENST00000597692.1:c.307_310del
NM_000528.3:c.2748_2751del	NP_000519.2:p.Leu917SerfsTer6
NM_001173498.1:c.2745_2748del	NP_001166969.1:p.Leu916SerfsTer6
XM_005259913.1:c.2751_2754del	XP_005259970.1:p.Leu918SerfsTer6
XM_011528017.1:c.1647_1650del	XP_011526319.1:p.Leu550SerfsTer6
XM_005259913.2:c.2751_2754del	XP_005259970.1:p.Leu918SerfsTer6
XM_024451518.1:c.1647_1650del	XP_024307286.1:p.Leu550SerfsTer6
NM_000528.4:c.2748_2751del MANE Select	NP_000519.2:p.Leu917SerfsTer6
NM_001173498.2:c.2745_2748del	NP_001166969.1:p.Leu916SerfsTer6