Canonical Allele Identifier: CA2582717371

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 2676437
• ClinVar RCV Id: RCV003470048
• gnomAD v4: 19-12647481-C-CGGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647482_12647485dup , CM000681.2:g.12647482_12647485dup	GRCh38
NC_000019.9:g.12758296_12758299dup , CM000681.1:g.12758296_12758299dup	GRCh37
NC_000019.8:g.12619296_12619299dup	NCBI36
NG_008318.1:g.24293_24296dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.2778_2781dup MANE Select	ENSP00000395473.2:p.Gly928PhefsTer4
ENST00000221363.8:c.2775_2778dup	ENSP00000221363.4:p.Gly927PhefsTer4
ENST00000456935.6:c.2778_2781dup	ENSP00000395473.2:p.Gly928PhefsTer4
ENST00000466794.5:n.3368_3371dup
ENST00000469423.1:n.100_103dup
ENST00000493218.5:n.189_192dup
ENST00000597692.1:c.337_340dup
NM_000528.3:c.2778_2781dup	NP_000519.2:p.Gly928PhefsTer4
NM_001173498.1:c.2775_2778dup	NP_001166969.1:p.Gly927PhefsTer4
XM_005259913.1:c.2781_2784dup	XP_005259970.1:p.Gly929PhefsTer4
XM_011528017.1:c.1677_1680dup	XP_011526319.1:p.Gly561PhefsTer4
XM_005259913.2:c.2781_2784dup	XP_005259970.1:p.Gly929PhefsTer4
XM_024451518.1:c.1677_1680dup	XP_024307286.1:p.Gly561PhefsTer4
NM_000528.4:c.2778_2781dup MANE Select	NP_000519.2:p.Gly928PhefsTer4
NM_001173498.2:c.2775_2778dup	NP_001166969.1:p.Gly927PhefsTer4