Canonical Allele Identifier: CA2582720994

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12658297-T-TG

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1156dup MANE Select	ENSP00000395473.2:p.Gln386ProfsTer?
ENST00000221363.8:c.1153dup	ENSP00000221363.4:p.Gln385ProfsTer?
ENST00000456935.6:c.1156dup	ENSP00000395473.2:p.Gln386ProfsTer?
ENST00000465830.1:n.320dup
ENST00000466794.5:n.1055dup
ENST00000495617.1:n.280+433dup
NM_000528.3:c.1156dup	NP_000519.2:p.Gln386ProfsTer?
NM_001173498.1:c.1153dup	NP_001166969.1:p.Gln385ProfsTer?
XM_005259913.1:c.1159dup	XP_005259970.1:p.Gln387ProfsTer?
XM_011528017.1:c.55dup	XP_011526319.1:p.Gln19ProfsTer?
XM_005259913.2:c.1159dup	XP_005259970.1:p.Gln387ProfsTer?
XM_024451518.1:c.55dup	XP_024307286.1:p.Gln19ProfsTer?
NM_000528.4:c.1156dup MANE Select	NP_000519.2:p.Gln386ProfsTer?
NM_001173498.2:c.1153dup	NP_001166969.1:p.Gln385ProfsTer?