Canonical Allele Identifier: CA2582720865

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12657954-C-CAAAAAAAAAAAAAAAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657962_12657981dup , CM000681.2:g.12657962_12657981dup	GRCh38
NC_000019.9:g.12768776_12768795dup , CM000681.1:g.12768776_12768795dup	GRCh37
NC_000019.8:g.12629776_12629795dup	NCBI36
NG_008318.1:g.13804_13823dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1309+89_1309+108dup MANE Select	ENSP00000395473.2:n.1309+89_1309+108dup
ENST00000221363.8:c.1306+89_1306+108dup	ENSP00000221363.4:n.1306+89_1306+108dup
ENST00000456935.6:c.1309+89_1309+108dup	ENSP00000395473.2:n.1309+89_1309+108dup
ENST00000465830.1:n.473+89_473+108dup
ENST00000466794.5:n.1208+89_1208+108dup
ENST00000495617.1:n.281-214_281-195dup
NM_000528.3:c.1309+89_1309+108dup	NP_000519.2:n.1309+89_1309+108dup
NM_001173498.1:c.1306+89_1306+108dup	NP_001166969.1:n.1306+89_1306+108dup
XM_005259913.1:c.1312+89_1312+108dup	XP_005259970.1:n.1312+89_1312+108dup
XM_011528017.1:c.208+89_208+108dup	XP_011526319.1:n.208+89_208+108dup
XM_005259913.2:c.1312+89_1312+108dup	XP_005259970.1:n.1312+89_1312+108dup
XM_024451518.1:c.208+89_208+108dup	XP_024307286.1:n.208+89_208+108dup
NM_000528.4:c.1309+89_1309+108dup MANE Select	NP_000519.2:n.1309+89_1309+108dup
NM_001173498.2:c.1306+89_1306+108dup	NP_001166969.1:n.1306+89_1306+108dup