Canonical Allele Identifier: CA2582720406

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12657252-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657252_12657253insA , CM000681.2:g.12657252_12657253insA	GRCh38
NC_000019.9:g.12768066_12768067insA , CM000681.1:g.12768066_12768067insA	GRCh37
NC_000019.8:g.12629066_12629067insA	NCBI36
NG_008318.1:g.14525_14526insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1419+193_1419+194insT MANE Select	ENSP00000395473.2:n.1419+193_1419+194insT
ENST00000221363.8:c.1416+193_1416+194insT	ENSP00000221363.4:n.1416+193_1416+194insT
ENST00000456935.6:c.1419+193_1419+194insT	ENSP00000395473.2:n.1419+193_1419+194insT
ENST00000466794.5:n.1318+193_1318+194insT
ENST00000495617.1:n.595+193_595+194insT
ENST00000593686.1:c.29+193_29+194insT
ENST00000595880.5:n.16+111_16+112insT
NM_000528.3:c.1419+193_1419+194insT	NP_000519.2:n.1419+193_1419+194insT
NM_001173498.1:c.1416+193_1416+194insT	NP_001166969.1:n.1416+193_1416+194insT
XM_005259913.1:c.1422+193_1422+194insT	XP_005259970.1:n.1422+193_1422+194insT
XM_011528017.1:c.318+193_318+194insT	XP_011526319.1:n.318+193_318+194insT
XM_005259913.2:c.1422+193_1422+194insT	XP_005259970.1:n.1422+193_1422+194insT
XM_024451518.1:c.318+193_318+194insT	XP_024307286.1:n.318+193_318+194insT
NM_000528.4:c.1419+193_1419+194insT MANE Select	NP_000519.2:n.1419+193_1419+194insT
NM_001173498.2:c.1416+193_1416+194insT	NP_001166969.1:n.1416+193_1416+194insT