Canonical Allele Identifier: CA2695198138

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 2676433
• ClinVar RCV Id: RCV003470046

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658299del , CM000681.2:g.12658299del	GRCh38
NC_000019.9:g.12769113del , CM000681.1:g.12769113del	GRCh37
NC_000019.8:g.12630113del	NCBI36
NG_008318.1:g.13480del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1156del MANE Select	ENSP00000395473.2:p.Gln386SerfsTer?
ENST00000221363.8:c.1153del	ENSP00000221363.4:p.Gln385SerfsTer?
ENST00000456935.6:c.1156del	ENSP00000395473.2:p.Gln386SerfsTer?
ENST00000465830.1:n.320del
ENST00000466794.5:n.1055del
ENST00000495617.1:n.280+433del
NM_000528.3:c.1156del	NP_000519.2:p.Gln386SerfsTer?
NM_001173498.1:c.1153del	NP_001166969.1:p.Gln385SerfsTer?
XM_005259913.1:c.1159del	XP_005259970.1:p.Gln387SerfsTer?
XM_011528017.1:c.55del	XP_011526319.1:p.Gln19SerfsTer?
XM_005259913.2:c.1159del	XP_005259970.1:p.Gln387SerfsTer?
XM_024451518.1:c.55del	XP_024307286.1:p.Gln19SerfsTer?
NM_000528.4:c.1156del MANE Select	NP_000519.2:p.Gln386SerfsTer?
NM_001173498.2:c.1153del	NP_001166969.1:p.Gln385SerfsTer?