Canonical Allele Identifier: CA2582720900

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12657980-A-AAAT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657981_12657982insATA , CM000681.2:g.12657981_12657982insATA	GRCh38
NC_000019.9:g.12768795_12768796insATA , CM000681.1:g.12768795_12768796insATA	GRCh37
NC_000019.8:g.12629795_12629796insATA	NCBI36
NG_008318.1:g.13797_13798insATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1309+82_1309+83insATT MANE Select	ENSP00000395473.2:n.1309+82_1309+83insATT
ENST00000221363.8:c.1306+82_1306+83insATT	ENSP00000221363.4:n.1306+82_1306+83insATT
ENST00000456935.6:c.1309+82_1309+83insATT	ENSP00000395473.2:n.1309+82_1309+83insATT
ENST00000465830.1:n.473+82_473+83insATT
ENST00000466794.5:n.1208+82_1208+83insATT
ENST00000495617.1:n.281-221_281-220insATT
NM_000528.3:c.1309+82_1309+83insATT	NP_000519.2:n.1309+82_1309+83insATT
NM_001173498.1:c.1306+82_1306+83insATT	NP_001166969.1:n.1306+82_1306+83insATT
XM_005259913.1:c.1312+82_1312+83insATT	XP_005259970.1:n.1312+82_1312+83insATT
XM_011528017.1:c.208+82_208+83insATT	XP_011526319.1:n.208+82_208+83insATT
XM_005259913.2:c.1312+82_1312+83insATT	XP_005259970.1:n.1312+82_1312+83insATT
XM_024451518.1:c.208+82_208+83insATT	XP_024307286.1:n.208+82_208+83insATT
NM_000528.4:c.1309+82_1309+83insATT MANE Select	NP_000519.2:n.1309+82_1309+83insATT
NM_001173498.2:c.1306+82_1306+83insATT	NP_001166969.1:n.1306+82_1306+83insATT