Canonical Allele Identifier: CA2582717370

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12647476-ACGTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647479_12647482del , CM000681.2:g.12647479_12647482del	GRCh38
NC_000019.9:g.12758293_12758296del , CM000681.1:g.12758293_12758296del	GRCh37
NC_000019.8:g.12619293_12619296del	NCBI36
NG_008318.1:g.24298_24301del

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.2783_2786del MANE Select	ENSP00000395473.2:p.Gly928ValfsTer3
ENST00000221363.8:c.2780_2783del	ENSP00000221363.4:p.Gly927ValfsTer3
ENST00000456935.6:c.2783_2786del	ENSP00000395473.2:p.Gly928ValfsTer3
ENST00000466794.5:n.3373_3376del
ENST00000469423.1:n.105_108del
ENST00000493218.5:n.194_197del
ENST00000597692.1:c.342_345del
NM_000528.3:c.2783_2786del	NP_000519.2:p.Gly928ValfsTer3
NM_001173498.1:c.2780_2783del	NP_001166969.1:p.Gly927ValfsTer3
XM_005259913.1:c.2786_2789del	XP_005259970.1:p.Gly929ValfsTer3
XM_011528017.1:c.1682_1685del	XP_011526319.1:p.Gly561ValfsTer3
XM_005259913.2:c.2786_2789del	XP_005259970.1:p.Gly929ValfsTer3
XM_024451518.1:c.1682_1685del	XP_024307286.1:p.Gly561ValfsTer3
NM_000528.4:c.2783_2786del MANE Select	NP_000519.2:p.Gly928ValfsTer3
NM_001173498.2:c.2780_2783del	NP_001166969.1:p.Gly927ValfsTer3