Canonical Allele Identifier: CA993664479

Gene: MAN2B1

Linked Data

• gnomAD v3: 19-12647913-C-CG
• gnomAD v4: 19-12647913-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647917dup , CM000681.2:g.12647917dup	GRCh38
NC_000019.9:g.12758731dup , CM000681.1:g.12758731dup	GRCh37
NC_000019.8:g.12619731dup	NCBI36
NG_008318.1:g.23864dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2664+261dup MANE Select	ENSP00000395473.2:n.2664+261dup
ENST00000221363.8:c.2661+261dup	ENSP00000221363.4:n.2661+261dup
ENST00000456935.6:c.2664+261dup	ENSP00000395473.2:n.2664+261dup
ENST00000466794.5:n.3254+261dup
ENST00000597692.1:c.223+261dup
NM_000528.3:c.2664+261dup	NP_000519.2:n.2664+261dup
NM_001173498.1:c.2661+261dup	NP_001166969.1:n.2661+261dup
XM_005259913.1:c.2667+261dup	XP_005259970.1:n.2667+261dup
XM_011528017.1:c.1563+261dup	XP_011526319.1:n.1563+261dup
XM_005259913.2:c.2667+261dup	XP_005259970.1:n.2667+261dup
XM_024451518.1:c.1563+261dup	XP_024307286.1:n.1563+261dup
NM_000528.4:c.2664+261dup MANE Select	NP_000519.2:n.2664+261dup
NM_001173498.2:c.2661+261dup	NP_001166969.1:n.2661+261dup