Canonical Allele Identifier: CA993664320

Gene: MAN2B1

Linked Data

• dbSNP Id: rs2023722994
• gnomAD v3: 19-12647602-C-CG
• gnomAD v4: 19-12647602-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647605dup , CM000681.2:g.12647605dup	GRCh38
NC_000019.9:g.12758419dup , CM000681.1:g.12758419dup	GRCh37
NC_000019.8:g.12619419dup	NCBI36
NG_008318.1:g.24175dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2665-5dup MANE Select	ENSP00000395473.2:n.2665-5dup
ENST00000221363.8:c.2662-5dup	ENSP00000221363.4:n.2662-5dup
ENST00000456935.6:c.2665-5dup	ENSP00000395473.2:n.2665-5dup
ENST00000466794.5:n.3255-5dup
ENST00000493218.5:n.71dup
ENST00000597692.1:c.224-5dup
NM_000528.3:c.2665-5dup	NP_000519.2:n.2665-5dup
NM_001173498.1:c.2662-5dup	NP_001166969.1:n.2662-5dup
XM_005259913.1:c.2668-5dup	XP_005259970.1:n.2668-5dup
XM_011528017.1:c.1564-5dup	XP_011526319.1:n.1564-5dup
XM_005259913.2:c.2668-5dup	XP_005259970.1:n.2668-5dup
XM_024451518.1:c.1564-5dup	XP_024307286.1:n.1564-5dup
NM_000528.4:c.2665-5dup MANE Select	NP_000519.2:n.2665-5dup
NM_001173498.2:c.2662-5dup	NP_001166969.1:n.2662-5dup