Canonical Allele Identifier: CA2582720886

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12657977-A-ATAAG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657977_12657978insTAAG , CM000681.2:g.12657977_12657978insTAAG	GRCh38
NC_000019.9:g.12768791_12768792insTAAG , CM000681.1:g.12768791_12768792insTAAG	GRCh37
NC_000019.8:g.12629791_12629792insTAAG	NCBI36
NG_008318.1:g.13800_13801insCTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1309+85_1309+86insCTTA MANE Select	ENSP00000395473.2:n.1309+85_1309+86insCTTA
ENST00000221363.8:c.1306+85_1306+86insCTTA	ENSP00000221363.4:n.1306+85_1306+86insCTTA
ENST00000456935.6:c.1309+85_1309+86insCTTA	ENSP00000395473.2:n.1309+85_1309+86insCTTA
ENST00000465830.1:n.473+85_473+86insCTTA
ENST00000466794.5:n.1208+85_1208+86insCTTA
ENST00000495617.1:n.281-218_281-217insCTTA
NM_000528.3:c.1309+85_1309+86insCTTA	NP_000519.2:n.1309+85_1309+86insCTTA
NM_001173498.1:c.1306+85_1306+86insCTTA	NP_001166969.1:n.1306+85_1306+86insCTTA
XM_005259913.1:c.1312+85_1312+86insCTTA	XP_005259970.1:n.1312+85_1312+86insCTTA
XM_011528017.1:c.208+85_208+86insCTTA	XP_011526319.1:n.208+85_208+86insCTTA
XM_005259913.2:c.1312+85_1312+86insCTTA	XP_005259970.1:n.1312+85_1312+86insCTTA
XM_024451518.1:c.208+85_208+86insCTTA	XP_024307286.1:n.208+85_208+86insCTTA
NM_000528.4:c.1309+85_1309+86insCTTA MANE Select	NP_000519.2:n.1309+85_1309+86insCTTA
NM_001173498.2:c.1306+85_1306+86insCTTA	NP_001166969.1:n.1306+85_1306+86insCTTA